Research Explorer

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Researcher

Filomeen Haerynck

Awards & Distinctions

221 Results

2024

A novel heterozygous variant in AICDA impairs Ig class switching and somatic hypermutation in human B cells and is associated with autosomal dominant HIGM2 syndrome

Erika Della MinaKatherine J. L. JacksonAlexander J. I. CrawfordMegan L. FaulksKarrnan PathmanandavelNicolino AcquarolaMichael O’SullivanTessa KerreLeslie NaesensKarlien Claes et al.

A1 Journal Article in JOURNAL OF CLINICAL IMMUNOLOGY

Age-dependent signature of serum inflammatory cytokines IL-1Ra, IL-1β, IL-6, IL-18, TNF-α, CXCL9 and CXCL10 in healthy children

Maarten BuytaertRachida El KaddouriLevi HosteBram MeertensSimon TavernierVeronique DebackerKarlien ClaesJo DehoorneFilomeen Haerynck

Gene editing-based targeted integration for correction of Wiskott-Aldrich syndrome

Melissa PilleJohn M. AvilaSo Hyun ParkCuong Q. LeHaipeng XueFilomeen HaerynckLavanya SaxenaCiaran LeeElizabeth J. ShpallGang Bao et al.

A1 Journal Article in MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT

Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

Astrid MarchalElizabeth T. CirulliIva NeveuxEvangelos BellosRyan S. ThwaitesKelly M. Schiabor BarrettYu ZhangIvana Nemes-BokunMariya KalinovaAndrew Catchpole et al.

A2 Journal Article in HUMAN GENETICS AND GENOMICS ADVANCES

Longevity of the humoral and cellular responses after SARS-CoV-2 booster vaccinations in immunocompromised patients

Matthijs OyaertMarie-Angélique De ScheerderSophie Van HerrewegeGuy LaureysSofie Van AsscheMelissa CambronLeslie NaesensLevi HosteKarlien ClaesFilomeen Haerynck et al.

A1 Journal Article in EUROPEAN JOURNAL OF CLINICAL MICROBIOLOGY & INFECTIOUS DISEASES

Made in Belgium : exploring the immune horizon : systemic inflammatory diseases in the era of SARS-CoV-2 and beyond

Levi HosteFilomeen HaerynckJo DehoorneSimon Tavernier

A2 Journal Article in BELGIAN JOURNAL OF PAEDIATRICS

PTPN2 deficiency expands the monogenetic causes of dysregulated JAK/STAT signaling resulting in autoimmunity

Leslie NaesensBram MeertensLore PottieMarieke De BruyneCiel De VriendtTessa KerreSimon TavernierFilomeen Haerynck

Serum proteomics reveals hemophagocytic lymphohistiocytosis-like phenotype in a subset of patients with multisystem inflammatory syndrome in children

Adam J. TullingMarloes G. HolierhoekAnja M. Jansen-HoogendijkLevi HosteFilomeen HaerynckSimon TavernierRianne OostenbrinkCorinne M.P. BuysseMichiel A.G.E. BannierJolita Bekhof et al.

A1 Journal Article in CLINICAL IMMUNOLOGY

Successful treatment of ulcerative colitis with anakinra : a case report

Marie TruyensLevi HosteJeroen GeldofAnne HoorensFilomeen HaerynckDIANA HUIS IN 'T VELDTriana Lobatón Ortega

A1 Journal Article in ACTA GASTRO-ENTEROLOGICA BELGICA

The EuroFlow PIDOT external quality assurance scheme : enhancing laboratory performance evaluation in immunophenotyping of rare lymphoid immunodeficiencies

Jana NeirinckMalicorne BuysseNaděžda BrdickovaMartín Perez-AndresCiel De VriendtTessa KerreFilomeen HaerynckXavier BossuytJacques J.M. van DongenAlberto Orfao et al.

A1 Journal Article in CLINICAL CHEMISTRY AND LABORATORY MEDICINE

The hyperPed-COVID international registry : impact of age of onset, disease presentation and geographical distribution on the final outcome of MIS-C

Roberta CaorsiAlessandro ConsolaroCamilla SpezianiBetul SozeriKadir UluEnrique Faugier-FuentesHector Menchaca-AguayoSeza OzenSeher SenerShahana Akhter Rahman et al.

A1 Journal Article in JOURNAL OF AUTOIMMUNITY

The riddle of recurrent fever: a clinical approach to pediatric autoinflammatory diseases

Bram MeertensLevi HosteSimon TavernierFilomeen Haerynck

U Journal Article in Frontiers in Pediatrics

2023

A Complement Atlas identifies interleukin 6 dependent alternative pathway dysregulation as a key druggable feature of COVID-19

Karel Van DammeLevi HosteJozefien DeclercqElisabeth De LeeuwBastiaan MaesLiesbet MartensRoos ColmanRobin BrowaeysCédric BosteelsStijn Verwaerde et al.

A complement atlas identifies interleukin-6-dependent alternative pathway dysregulation as a key druggable feature of COVID-19

Karel Van DammeLevi HosteJozefien DeclercqElisabeth De LeeuwBastiaan MaesLiesbet MartensRoos ColmanRobin BrowaeysCédric BosteelsStijn Verwaerde et al.

A1 Journal Article in SCIENCE TRANSLATIONAL MEDICINE

Activated phosphoinositide 3-kinase δ syndrome : update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

Maria Elena MaccariMartin WolkewitzCharlotte SchwabTiziana LorenziniJennifer W. LeidingNathalie AladjdiHassan AbolhassaniWadih Abou-ChahlaAlessandro AiutiSaba Azarnoush et al.

A1 Journal Article in JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

COVID-19 vaccination in patients with primary immunodeficiencies : an international survey on patient vaccine hesitancy and self-reported adverse events

Martine PergentFilomeen HaerynckLevi HosteAnn Gardulf

A1 Journal Article in FRONTIERS IN IMMUNOLOGY

Central nervous system manifestations of LRBA deficiency : case report of two siblings and literature review

T. C. MangodtK. Vanden DriesscheK. K. NorgaN. MoesMarieke De BruyneFilomeen HaerynckLaura Teresa Bordon VieraA. C. JansenA. I. Jonckheere

A1 Journal Article in BMC PEDIATRICS

Clinical practice of hereditary angioedema in Belgium : opportunities for optimized care

DG EboMM Van der PoortenAL Van GasseR. SchrijversC. HermansM. BartiauxFilomeen HaerynckJulie WillekensHilde LapeereM. Moutschen et al.

A1 Journal Article in ACTA CLINICA BELGICA

Combined deficient response to polysaccharide-based and protein-based vaccines predicts a severe clinical phenotype

Maaike CockxFilomeen HaerynckLevi HosteRik SchrijversJutte Van der Werff ten BoschDoreen DillaertsDebby ThomasHeidi SchaballieGiorgia BucciolWiert Robberechts et al.

A1 Journal Article in CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Comparison of SARS-CoV-2 seroconversion in children with chronic diseases with healthy children and adults during the first waves of the COVID-19 pandemic

Levi HosteAgnieszka Prytula-EbelsJo DehoorneRuth De BruyneStephanie Van BiervlietKATHLEEN DE WAELEEvelyn MaesVictoria BordonArnaud VanlanderKarlien Claes et al.

A1 Journal Article in FRONTIERS IN PEDIATRICS

Complex regulation of alarmins S100A8/A9 and secretion via gasdermin D pores exacerbates autoinflammation in familial Mediterranean fever

Selina K. JorchAnnika McNallyPhilipp BergerJonas WolfKim KaiserAndrian Chetrusca CovashStefanie RobeckIsabell PastauOlesja FehlerSaskia-L. Jauch-Speer et al.

A1 Journal Article in JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Editorial : the role of transcription factors in inborn errors of immunity

Delfien BogaertHye Sun KuehnVictoria BordonFilomeen Haerynck

Editorial material

Exploring the immune horizon : systemic inflammatory diseases in the era of SARS-CoV-2 and beyond

Levi HosteFilomeen HaerynckJo DehoorneSimon Tavernier

Hereditary angioedema (HAE) in Belgium : results from a national survey

MM Van der PoortenR SchrijversC HermansM BartiauxFilomeen HaerynckH LapeereM MoutschenO MichelV SabatoDG Ebo et al.

A2 Journal Article in FRONTIERS IN ALLERGY

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

Ana García-GarcíaRebeca Pérez de DiegoDarawan RinchaiJordi Solé-ViolánÀngela Deyà-MartínezBlanca García-SolisJosé M. Lorenzo-SalazarElisa Hernández-BritoAnna-Lisa LanzLeen Moens et al.

A1 Journal Article in JOURNAL OF EXPERIMENTAL MEDICINE

Immunoglobulin, glucocorticoid, or combination therapy for multisystem inflammatory syndrome in children : a propensity-weighted cohort study

Samuel Channon-WellsOrtensia VitoAndrew J McArdleEleanor G SeabyPriyen ShahEkaterina PazukhinaClare WilsonClaire BroderickGiselle D'SouzaIlana Keren et al.

A1 Journal Article in LANCET RHEUMATOLOGY

Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity

Stuart G. TangyeLaurent AbelSalah Al-MuhsenAlessandro AiutiSaleh Al-MuhsenFahd Al-MullaMark S. AndersonEvangelos AndreakosAntonio NovelliAndrés A. Arias et al.

A1 Journal Article in JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

Danyel LeeJérémie Le PenAhmad YatimBeihua DongYann AquinoMasato OgishiRémi PescarmonaEstelle TalouarnDarawan RinchaiPeng Zhang et al.

A1 Journal Article in SCIENCE

Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children

Giorgia BucciolIsabelle MeytsLaurent AbelSalah Al-MuhsenAlessandro AiutiFahd Al-MullaEvangelos AndreakosNovelli AntonioAndrés A. AriasSophie Trouillet-Assant et al.

A1 Journal Article in JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Innate immune sensors balance infection surveillance and autoinflammation

Leslie NaesensFilomeen HaerynckTessa KerreSimon Tavernier

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Daniela MatuozzoEstelle TalouarnAstrid MarchalPeng ZhangJeremy ManryYoann SeeleuthnerYu ZhangAlexandre BolzeMatthieu ChaldebasBaptiste Milisavljevic et al.

A1 Journal Article in GENOME MEDICINE

Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development : a cross-sectional study

Martine CoolsCelien GrijpJana NeirinckSimon TavernierPetra SchelstraeteJulie Van De VeldeLieve MorbéeElfride De BaereCarolien BonroyYolande van Bever et al.

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

The RNA polymerase III–RIG-I axis in antiviral immunity and inflammation

Leslie NaesensFilomeen HaerynckMichaela U. Gack

A1 Journal Article in TRENDS IN IMMUNOLOGY

2022

A case of disseminated tuberculosis during a twin pregnancy following in vitro fertilization

L KestensLander Van AckerAnne HoorensElke krepsFilomeen HaerynckA DebrockV CatrySteven WeyersKristien RoelensEva Van Braeckel

A1 Journal Article in INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES

A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection

Evangelos AndreakosLaurent AbelDonald C. VinhElżbieta KajaBeth A. DroletQian ZhangCliona O’FarrellyGiuseppe NovelliCarlos Rodríguez-GallegoFilomeen Haerynck et al.

A1 Journal Article in NATURE IMMUNOLOGY

A novel S-micronucleus assay for radiosensitivity detection

Evi DuthooFilomeen HaerynckAnne VralAns Baeyens

Acute perimyocarditis in a case of multisystem inflammatory syndrome in adults

Jens Van PraetPascale De PaepeLevi HosteFilomeen Haerynck

Editorial material

Autoantibodies against type I IFNs in patients with critical influenza pneumonia

Qian ZhangAndres PizzornoLisa MiorinPaul BastardAdrian GervaisTom Le VoyerLucy BizienJeremy ManryJeremie RosainQuentin Philippot et al.

A1 Journal Article in JOURNAL OF EXPERIMENTAL MEDICINE

Autoimmune loss of entero-endocrine cells is a hallmark apeced manifestation that results in severe malabsorption but can recover with immune suppressants

Levi HosteLeslie NaesensSara Van AkenBruno LapauwGuy T'SjoenCharlotte VerrokenNicolette MoesRuth De BruyneTessa KerreFilomeen Haerynck

Delayed presentations of severe combined immunodeficiency during the SARS‑CoV‑2 pandemic

Levi HosteGiorgia BucciolAnniek CorveleynStijn CornelisVictoria BordonANNIK DE JAEGERHeidi SchaballieEllen DeoletJo Van DorpeGregory Strubbe et al.

Efficacy and safety of the investigational complement C5 inhibitor zilucoplan in patients hospitalized with COVID-19 : an open-label randomized controlled trial

Elisabeth De LeeuwKarel Van DammeJozefien DeclercqCédric BosteelsBastiaan MaesSimon TavernierLaurent DetalleTrevor SmartSophie GlattNincy Debeuf et al.

A1 Journal Article in RESPIRATORY RESEARCH

Evaluation of humoral and cellular responses in SARS-CoV-2 mRNA vaccinated immunocompromised patients

Matthijs OyaertMarie-Angélique De ScheerderSophie Van HerrewegeGuy LaureysSofie Van AsscheMelissa CambronLeslie NaesensLevi HosteKarlien ClaesFilomeen Haerynck et al.

A1 Journal Article in FRONTIERS IN IMMUNOLOGY

Familial hemophagocytic lymphohistiocytosis type 3 presenting as neonatal cholestasis and splenomegaly

Delfien BogaertRuth De BruyneArnaud VanlanderLara GarabedianYves LouisFilomeen HaerynckVictoria BordonBarbara De Moerloose

A1 Journal Article in PEDIATRIC ALLERGY AND IMMUNOLOGY

Fibroblast-based radiosensitivity assessment for primary immunodeficiency patients

Elien BeylsSomara De BeulFilomeen HaerynckVictoria BordonAlina FersterAnne VralAns Baeyens

GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141

Leslie NaesensSantoshi MuppalaDhiraj AcharyaJosephine NemegeerDelfien BogaertJung-Hyun LeeKatrien StaesVeronique DebackerPieter De BleserMarieke De Bruyne et al.

A1 Journal Article in SCIENCE IMMUNOLOGY

Human genetic and immunological determinants of critical COVID-19 pneumonia

Qian ZhangPaul BastardAdem KarbuzAdrian GervaisAhmad Abou TayounAlessandro AiutiAlexandre BelotAlexandre BolzeAlexandre GaudetAnastasiia Bondarenko et al.

A1 Journal Article in NATURE

Loss of GM-CSF-dependent instruction of alveolar macrophages in COVID-19 provides a rationale for inhaled GM-CSF treatment

Cédric BosteelsKarel Van DammeElisabeth De LeeuwJozefien DeclercqBastiaan MaesVictor BosteelsLevi HosteLeslie NaesensNincy DebeufJulie Deckers et al.

A1 Journal Article in CELL REPORTS MEDICINE

Mental health outcomes among parents of children with a chronic disease during the COVID-19 pandemic : the role of parental burn-out

Aline WautersTine VervoortKarlien DhondtBart SoenensMaarten VansteenkisteSofie MorbéeJoachim WaterschootFilomeen HaerynckKristof VandekerckhoveHelene Verhelst et al.

A1 Journal Article in JOURNAL OF PEDIATRIC PSYCHOLOGY

Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières syndrome with severe end-organ involvement

Leslie NaesensJosephine NemegeerFilip RoelensLore VallaeysMarije MeuwissenKatrien JanssensPATRICK VERLOOBenson OgunjimiDimitri HemelsoetLevi Hoste et al.

A1 Journal Article in JOURNAL OF CLINICAL IMMUNOLOGY

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

Qian ZhangDaniela MatuozzoJérémie Le PenDanyel LeeLeen MoensTakaki AsanoJonathan BohlenZhiyong LiuMarcela Moncada-VelezYasemin Kendir-Demirkol et al.

A1 Journal Article in JOURNAL OF EXPERIMENTAL MEDICINE

SARS-CoV-2-related multisystem inflammatory syndrome in adult complicated by myocarditis and cardiogenic shock

Maarten De SmetJan FierensLander VanhulleYannick Vande WeygaerdeThomas MalfaitDaniel DevosFilomeen HaerynckSofie Gevaert

A1 Journal Article in ESC HEART FAILURE

Safety of COVID-19 vaccination in children with a history of MIS-C : an international survey

Levi HosteAntoni Soriano-ArandesEmilie Pauline BuddinghElizabeth WhittakerAlexandre BelotRolando Ulloa-GutierrezPeter OlbrichFilomeen Haerynck

Severe acute respiratory syndrome coronavirus 2 vaccination in children with a history of multisystem inflammatory syndrome in children : an international survey

Levi HosteAntoni Soriano-ArandesEmilie Pauline BuddinghElizabeth WhittakerAlexandre BelotRolando Ulloa-GutierrezPeter OlbrichFilomeen Haerynck

A1 Journal Article in JOURNAL OF PEDIATRICS

Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Nika SchuermansDimitri HemelsoetWim TerrynSanne SteyaertRudy Van CosterPaul CouckeWouter SteyaertBert CallewaertElke BogaertPatrick Verloo et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Studying severe long COVID to understand post-infectious disorders beyond COVID-19

Liam TownsendCliona O’FarrellyIvan TancevskiJudith Löffler-RaggTrine H. MogensenJean Laurent CasanovaLaurent AbelAlessandro AiutiSaleh Al-MuhsenFahd Al-Mulla et al.

A1 Journal Article in NATURE MEDICINE

TIM3+ TRBV11-2 T cells and IFNγ signature in patrolling monocytes and CD16+ NK cells delineate MIS-C

Levi HosteLisa RoelsLeslie NaesensVictor BosteelsStijn VanheeSam DupontCédric BosteelsRobin BrowaeysNiels VandammeKevin Verstaen et al.

A1 Journal Article in JOURNAL OF EXPERIMENTAL MEDICINE

The Euroflow PID Orientation Tube in the diagnostic workup of primary immunodeficiency : daily practice performance in a tertiary university hospital

Jana NeirinckAnnelies EmmaneelMalicorne BuysseJan PhilippéSofie Van GassenYvan SaeysXavier BossuytStefanie De BuyserMirjam van der BurgMartin Perez-Andres et al.

A1 Journal Article in FRONTIERS IN IMMUNOLOGY

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

Jérémy ManryPaul BastardAdrian GervaisTom Le VoyerJérémie RosainQuentin PhilippotEleftherios MichailidisHans-Heinrich HoffmannShohei EtoMarina Garcia-Prat et al.

A1 Journal Article in PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Whole blood tcr vβ21.3 staining as a diagnostic test for multisystem inflammatory syndrome in children : a proof-of-concept study

Levi HosteJef WillemsEvelyn DhontPetra SchelstraeteJo DehoorneKristof VandekerckhoveAlexandre BelotBrigitte Bader-MeunierChristophe MalcusSimon Tavernier et al.

2021

A novel non-coding variant in DCLRE1C results in deregulated splicing and induces SCID through the generation of a truncated ARTEMIS protein that fails to support V(D)J recombination and DNA damage repair

Steven StrubbeMarieke De BruyneUlrich PannickeElien BeylsBart VandekerckhoveGeorges LeclercqElfride De BaereVictoria BordonAnne VralKlaus Schwarz et al.

A1 Journal Article in FRONTIERS IN IMMUNOLOGY

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Paul BastardAdrian GervaisTom Le VoyerJérémie RosainQuentin PhilippotJérémy ManryEleftherios MichailidisHans-Heinrich HoffmannShohei EtoMarina Garcia-Prat et al.

A1 Journal Article in SCIENCE IMMUNOLOGY

Clinical, genetic and immunological evaluation of the type I interferonopathy Aicardi-Goutieres syndrome caused by mutations in RNU7-1

Leslie NaesensJosephine NemegeerTessa KerreRudi BeyaertSimon TavernierJonathan MaelfaitFilomeen Haerynck

Congenital defects of phagocytes

Delfien BogaertFilomeen Haerynck

Bookchapter in Cellular primary immunodeficiencies

Distinct antibody repertoires against endemic human coronaviruses in children and adults

Taushif KhanMahbuba RahmanFatima Al AliSusie S. Y. HuangManar AtaQian ZhangPaul BastardZhiyong LiuEmmanuelle JouanguyVivien Beziat et al.

A1 Journal Article in JCI INSIGHT

Effect of anti-interleukin drugs in patients with COVID-19 and signs of cytokine release syndrome (COV-AID) : a factorial, randomised, controlled trial

Jozefien DeclercqKarel Van DammeElisabeth De LeeuwBastiaan MaesCédric BosteelsSimon TavernierStefanie De BuyserRoos ColmanMaya HitesGil Verschelden et al.

A1 Journal Article in LANCET RESPIRATORY MEDICINE

From your nose to your toes : a review of severe acute respiratory syndrome coronavirus 2 pandemic‒associated pernio

Lisa M. ArkinJohn J. MoonJennifer M. TranSamira AsgariCliona O’FarrellyEdward W. CowenJacqueline W. MaysAnne Marie SinghAlessandro AiutiAlexandre Belot et al.

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

GTF3A mutations in a patient with herpes simplex encephalitis reveals a novel role in viral immunity by transcribing 5S rRNA pseudogenes serving as RIG-I ligands

Leslie NaesensSantoshi MuppalaJung-Hyun LeeJosephine NemegeerDhiraj AcharyaDelfien BogaertMichiel van GentJens StaalKatrien StaesVeronique Debacker et al.

Granulomatous–lymphocytic interstitial lung disease : an international research prioritisation

John R. HurstS. Hamza AbbasHeba M. BintalibTiago M. AlfaroUlrich BaumannSiobhan O. BurnsAlison CondliffeJesper R. DavidsenBørre FevangAndrew R. Gennery et al.

A1 Journal Article in ERJ OPEN RESEARCH

Harnessing type I IFN immunity against SARS-CoV-2 with early administration of IFN-β

Donald C. VinhLaurent AbelPaul BastardMatthew P. ChengAntonio Condino-NetoPeter K. GregersenFilomeen HaerynckMaria-Pia CicaleseDavid HaginPere Soler-Palacín et al.

Editorial material

Immune monitoring in melanoma and urothelial cancer patients treated with anti-PD-1 immunotherapy and SBRT discloses tumor specific immune signatures

Annabel MeiresonSimon TavernierSofie Van GassenNora SundahlAnnelies DemeyerMathieu SpaasVibeke KruseLiesbeth FerdinandeJo Van DorpeBenjamin Hennart et al.

A1 Journal Article in CANCERS

Immunoglobulin g subclass and specific polysaccharide antibody deficiency : a clinical and immunological profile in a tertiary cohort

Levi HosteJudith ClausSimon SchelfhoutJarno De CraemerLaurens De KetelaereDelfien BogaertCarolien BonroyJan PhilippéJulie WillekensTessa Kerre et al.

Individuals with NR5A1 (SF1) mutations and atypical sex development and their asymptomatic family member carriers are at high risk of hyposplenism

Celien GrijpSimon TavernierJana NeirinckMaha Abdullhadi-AtwanJulie Van De VeldeDorien BaetensHannah VerdinLieve MorbéeElfride De BaereDavid Zangen et al.

Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Julian ThalhammerGerhard KindleAlexandra NietersStephan RuschMikko R.J. SeppänenAlain FischeBodo GrimbacherDavid EdgarMatthew BucklandNizar Mahlaoui et al.

A1 Journal Article in JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Integration of genomics and transcriptomics allows the identification of rare DNA damage defects in PID patients with a cancer predisposition

Lynn BackersBram PartonMattias Van HeetveldeMarieke De BruyneKim De LeeneerSimon TavernierAnne VralFilomeen HaerynckKathleen Claes

Integration of genomics and transcriptomics to identify DNA damage defects in PID patients prone to cancer

Lynn BackersBram PartonMattias Van HeetveldeMarieke De BruyneKim De LeeneerAnne VralFilomeen HaerynckKathleen Claes

Integration of genomics and transcriptomics to identify DNAdamage defects in PID patients with a cancer predisposition

Lynn BackersBram PartonMattias Van HeetveldeMarieke De BruyneKim De LeeneerAnne VralFilomeen HaerynckKathleen Claes

Missing heritability in Bloom syndrome : First report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene

Lynn BackersBram PartonMarieke De BruyneSimon TavernierKris Van Den BogaertBart LambrechtFilomeen HaerynckKathleen Claes

Missing heritability in Bloom syndrome : first report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene

Lynn BackersBram PartonMarieke De BruyneSimon TavernierKris Van Den BogaertBart LambrechtFilomeen HaerynckKathleen Claes

A1 Journal Article in CLINICAL GENETICS

Multisystem inflammatory syndrome in children related to COVID-19 : a systematic review

Levi HosteRuben Van PaemelFilomeen Haerynck

A1 Journal Article in EUROPEAN JOURNAL OF PEDIATRICS

Novel mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF and result in Aicardi-Goutières syndrome with severe end-organ involvement

Leslie NaesensJosephine NemegeerFilip RoelensLore VallaeysMarije MeuwissenKatrien JanssensPATRICK VERLOOBenson OgunjimiDimitri HemelsoetProgram for Undiagnosed Rare Diseases (UD-PrOZA) et al.

Parental experience and emotional well-being in families with a child with a chronic disease during the COVID 19 pandemic

Eline Van HoeckeKarlien DhondtAnn RaesStephanie Van BiervlietBarbara De MoerlooseSara Van AkenFilomeen HaerynckLevi HosteHelene VerhelstBart Soenens et al.

Plasma C3d levels as a diagnostic marker for complete complement factor I deficiency

Leslie NaesensJulie SmetSimon TavernierPetra SchelstraeteLevi HosteStijn LambrechtHelene VerhelstJutte van der Werff Ten BoschAlina FersterSophie Blumental et al.

A1 Journal Article in JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

SARS-CoV-2–related MIS-C : a key to the viral and genetic causes of Kawasaki disease?

Vanessa Sancho-ShimizuPetter BrodinAurélie CobatCatherine M. BiggsJulie ToubianaCarrie L. LucasSarah E. HenricksonAlexandre BelotElie HaddadKathie Beland et al.

A1 Journal Article in JOURNAL OF EXPERIMENTAL MEDICINE

SeroCovid19 : prospective seroprevalence monitoring reveals substantially reduced SARS-CoV-2 infection rate among tertiary pediatric patients

Levi HosteAgnieszka Prytula-EbelsJo DehoorneRuth De BruyneStephanie Van BiervlietKATHLEEN DE WAELEPetra SchelstraeteEvelyn MaesVictoria Bordon MariaArnaud Vanlander et al.

Treatment of multisystem inflammatory syndrome in children

A J McArdleO VitoH PatelE G SeabyP ShahC WilsonC BroderickR NijmanA H TremouletD Munblit et al.

A1 Journal Article in NEW ENGLAND JOURNAL OF MEDICINE

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

Takaki AsanoBertrand BoissonFanny OnodiDaniela MatuozzoMarcela Moncada-VelezMajistor Raj Luxman Maglorius RenkilarajPeng ZhangLaurent MeertensAlexandre BolzeMarie Materna et al.

A1 Journal Article in SCIENCE IMMUNOLOGY

‘Nieuwe heren, nieuwe wetten’ : identificatie van een nieuw pediatrisch inflammatoir syndroom in het midden van de SARS-CoV-2-pandemie

Levi HosteSimon TavernierFilomeen Haerynck

A4 Journal Article in PERCENTIEL (NEDERLANDSE ED.)

2020

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Paul BastardLindsey B. RosenQian ZhangEleftherios MichailidisHans-Heinrich HoffmannYu ZhangKarim DorghamQuentin PhilippotJeremie RosainVivien Beziat et al.

A1 Journal Article in SCIENCE

Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever

Hanne Van GorpLinyan HuangPedro Henrique Viana SaavedraMarnik VuylstekeTomoko AsaokaGiusi PrencipeAntonella InsalacoBenson OgunjimiJerold JeyaratnamIlaria Cataldo et al.

A1 Journal Article in ANNALS OF THE RHEUMATIC DISEASES

Case report : convalescent plasma, a targeted therapy for patients with CVID and severe COVID-19

Karel Van DammeSimon TavernierNele Van RoyElisabeth De LeeuwJozefien DeclercqCédric BosteelsBastiaan MaesMarieke De BruyneDelfien BogaertVictor Bosteels et al.

A1 Journal Article in FRONTIERS IN IMMUNOLOGY

Cytokine profiling by multiplex immunoassay as a valuable tool for diagnosis and monitoring patients with autoinflammatory disorders

Levi HosteJo DehoornePeggy JacquesSteven CallensJeroen van der HilstVito SabatoBenson OgunjimiSimon TavernierFilomeen Haerynck

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Vivien BéziatSimon TavernierYin-Huai ChenCindy S. MaMarie MaternaArian LaurenceJens StaalDominik AschenbrennerLisa RoelsLisa Worley et al.

A1 Journal Article in JOURNAL OF EXPERIMENTAL MEDICINE

EuroFlow standardized approach to diagnostic immunopheneotyping of severe PID in newborns and young children

Tomas KalinaMarina BakardjievaMaartje BlomMartin Perez-AndresBarbara BarendregtVeronika KanderováCarolien BonroyJan PhilippéElena BlancoIngrid Pico-Knijnenburg et al.

A1 Journal Article in FRONTIERS IN IMMUNOLOGY

Expect the unexpected : clinical case

Delfien BogaertMarieke De BruyneFrederic Rieux-LaucateElfride De BaereFilomeen Haerynck

First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation

Lynn BackersBram PartonStephanie VermeulenMarieke De BruyneSimon TavernierKris Van Den BogaertAnne VralAns BaeyensFilomeen HaerynckBart Lambrecht et al.

First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation

Lynn BackersBram PartonStephanie VermeulenMarieke De BruyneKris Van Den BogaertAnne VralAns BaeyensSimon TavernierFilomeen HaerynckKathleen Claes

GATA2 deficiency and haematopoietic stem cell transplantation : challenges for the clinical practitioner

Delfien BogaertGenevieve LaureysLeslie NaesensDominiek MazureMarieke De BruyneAmy P. HsuVictoria Bordon MariaErik WoutersSimon TavernierBart Lambrecht et al.

A1 Journal Article in BRITISH JOURNAL OF HAEMATOLOGY

Hematopoietic stem cell transplantation in children with primary immunodeficiencies : a Belgian single center experience

Delfien BogaertCatharina DhoogeFilomeen HaerynckVictoria Bordon Maria

Improved standardization of flow cytometry diagnostic screening of primary immunodeficiency by software-based automated gating

Eleni LinskensAM DiksJana NeirinckM Perez-AndresEmilie De MaertelaereMA BerkowskaTessa KerreMattias HofmansA Orfaovan Dongen JJM et al.

A1 Journal Article in FRONTIERS IN IMMUNOLOGY

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Qian ZhangPaul BastardZhiyong LiuJérémie Le PenMarcela Moncada-VelezJie ChenMasato OgishiIra K. D. SabliStephanie HodeibCecilia Korol et al.

A1 Journal Article in SCIENCE

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

Victoria Katharina TeschHassan AbolhassaniBella ShadurJoachim ZobelYuliya MareikaSvetlana SharapovaElif Karakoc-AydinerJacques G. RiviereMarina Garcia-PratNicolette Moes et al.

A1 Journal Article in JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Managing granulomatous-lymphocytic interstitial lung disease in common variable immunodeficiency disorders : e-GLILDnet International Clinicians Survey

Annick A. J. M. van de VenTiago M. AlfaroAlexandra RobinsonUlrich BaumannAnne BergeronSiobhan O. BurnsAlison M. CondliffeBorre FevangAndrew R. GenneryFilomeen Haerynck et al.

A1 Journal Article in FRONTIERS IN IMMUNOLOGY

Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene

Lynn BackersBram PartonMarieke De BruyneSimon TavernierKris Van Den BogaertBart LambrechtFilomeen HaerynckKathleen Claes

Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene

Lynn BackersBram PartonMarieke De BruyneSimon TavernierKris Van Den BogaertBart LambrechtFilomeen HaerynckKathleen Claes

Multisystem inflammatory syndrome in children related to COVID-19 : a systematic review

Levi HosteRuben Van PaemelFilomeen Haerynck

cDNA and targeted RNA sequencing to unravel hidden genetic defects in PID patients with only one-disease related variant in genes with recessive inheritance

Lynn BackersMarieke De BruyneSimon TavernierFilomeen HaerynckKathleen Claes

2019

'Every sweet has its sour' : rare skin lesions in a boy with combined immunodeficiency

Delfien BogaertMargo HagendorensMarieke De BruyneHilde LapeereAnnick CoventsElfride De BaereFrans De BaetsFilomeen Haerynck

A computational pipeline for the diagnosis of CVID patients

Annelies EmmaneelDelfien BogaertSofie Van GassenSimon TavernierMelissa DullaersFilomeen HaerynckYvan Saeys

A1 Journal Article in FRONTIERS IN IMMUNOLOGY

A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

Simon TavernierV AthanasopoulosPATRICK VERLOOG BehrensJens StaalDelfien BogaertLeslie NaesensMarieke De BruyneSofie Van GassenEef Parthoens et al.

A1 Journal Article in NATURE COMMUNICATIONS

Assessment of radiation sensitivity in patients with a primary immunodeficiency disease

Anne VralAns BaeyensKathleen ClaesCarolien BonroyVictoria BonroyElien BeylsEvi DuthooLynn BackersStephanie VermeulenFilomeen Haerynck

Congenital myeloperoxidase deficiency caused by a homozygous MPO splice site mutation in a patient with recurrent candida otomastoiditis

Frederic AckeDelfien BogaertHelen Van HoeckeKatrien BonteCarolien BonroyPetra SchelstraeteMarieke De BruyneElfride De BaereIngeborg DhoogeFilomeen Haerynck

Defects in memory B-cell and plasma cell subsets expressing different immunoglobulin-subclasses in patients with CVID and immunoglobulin subclass deficiencies

Elena BlancoMartín Pérez-AndrésSonia Arriba-MéndezCristina SerranoIgnacio CriadoLucía Del Pino-MolinaSusana SilvaIgnacio MadrugaMarina BakardjievaCatarina Martins et al.

A1 Journal Article in JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

GATA2 deficiency and hematopoietic stem cell transplantation : challenges for the clinical practitioner

Delfien BogaertLeslie NaesensGenevieve LaureysVictoria Bordon MariaErik WoutersSimon TavernierBart LambrechtFilomeen HaerynckTessa Kerre

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis

Scott B DrutmanFilomeen HaerynckFranklin L ZhongDavid HumNicholas J HernandezSerkan BelkayaFranck RapaportSarah Jill de JongDavid CreytensSimon Tavernier et al.

A1 Journal Article in PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Immune dysregulation with lymphoproliferation progressing to a rare T-cell non-hodgkin lymphoma

Leslie NaesensHilde DemuynckKristof CokelaereCiel De VriendtDelfien BogaertCarolien BonroyRik SchrijversFilomeen HaerynckTessa Kerre

Immunoglobulin g subclass and specific polysaccharide antibody deficiency : a clinical and immunological profile in a tertiary cohort

Levi HosteJudith ClausSimon SchelfhoutJarno De CraemerLaurens De KetelaereDelfien BogaertCarolien BonroyJan PhilippéJulie WillekensTessa Kerre et al.

Pitfalls in diagnosing complement factor I deficiencies : from clinical phenotype to laboratory diagnosis

Leslie NaesensJulie SmetSimon TavernierStijn LambrechtTessa KerreJohan Van de WalleLubka RoumeninaPatrick StordeurFilomeen Haerynck

Radiosensitivity analysis in patients with a primary immunodeficiency disease

Anne VralAns BaeyensKathleen ClaesCarolien BonroyVictoria BordonElien BeylsEvi DuthooLynn BackersStephanie VermeulenFilomeen Haerynck

Rare skin lesions in a boy with activated phosphoinositide 3-kinase delta syndrome

Delfien BogaertMarieke De BruyneMargo HagendorensHilde LapeereAnnick CoventsElfride De BaereFrans De BaetsFilomeen Haerynck

Treatment forms and clinical course of LPS-Responsive beige-like anchor protein deficiency and introduction of the immune deficiency and dysregulation activity (=IDDA) score

Victoria Katharina TeschHassan AbolhassaniBodo GrimbacherArjan LankasterAndrew GenneryBella ShadurPolina StepenskyYuliya MareikaSvetlana SharapovaElif Karakoc-Aydiner et al.

X-linked agammaglobulinemia (XLA) : phenotype, diagnosis, and therapeutic challenges around the world

Zeinab A. El-SayedIrina AbramovaJuan Carlos AldaveWaleed Al-HerzLiliana BezrodnikRachida BoukariAhmed Aziz BousfihaCaterina CancriniAntonio Condino-NetoGhassan Dbaibo et al.

A1 Journal Article in WORLD ALLERGY ORGANIZATION JOURNAL

cDNA and targeted RNA sequencing to unravel hidden genetic defects in PID patients with only one-disease related variant in genes with recessive inheritance

Lynn BackersMarieke De BruyneSimon TavernierFilomeen HaerynckKathleen Claes

2018

A CARD9 founder mutation disrupts NF-κB signaling by inhibiting BCL10 and MALT1 recruitment and signalosome formation

Marieke De BruyneLevi HosteDelfien BogaertLien Van den BosscheSimon TavernierEef ParthoensMélanie MigaudDeborah KonopnickiJean Cyr YombiBart Lambrecht et al.

A1 Journal Article in FRONTIERS IN IMMUNOLOGY

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects

Delfien BogaertHye Sun KuehnCarolien BonroyKatherine R CalvoJo DehoorneArnaud VanlanderMarieke De BruyneUrszula CytlakVenetia BigleyFrans De Baets et al.

A1 Journal Article in JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive TH17 immunity

Marieke De BruyneDelfien BogaertKoen VenkenLien Van den BosscheCarolien BonroyLisa RoelsSimon TavernierEls van de VijverAnn DriessenMarielle van Gijn et al.

A1 Journal Article in JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Development and validation of an LC tandem MS assay for the quantification of β-lactam antibiotics in the sputum of cystic fibrosis patients

Katrien ForierVirginie Van HeckMieke CarlierEva Van BraeckelSabine Van daeleFrans De BaetsPetra SchelstraeteFilomeen HaerynckVeronique StoveLeen Van Simaey et al.

A1 Journal Article in JOURNAL OF ANTIMICROBIAL CHEMOTHERAPY

Genes at the crossroad of primary immunodeficiencies and cancer

Charlotte DerpoorterVictoria Bordon MariaGenevieve LaureysFilomeen HaerynckTim Lammens

A1 Journal Article in FRONTIERS IN IMMUNOLOGY

Ikaros family zinc finger 1 regulates dendritic cell development and function in humans

U. CytlakA. ResteuDelfien BogaertH. S. KuehnT. AltmannA. GenneryG. JacksonA. KumanovicsMelissa DullaersJ. Reichenbach et al.

Ikaros family zinc finger 1 regulates dendritic cell development and function in humans

Urszula CytlakAnastasia ResteuDelfien BogaertHye Sun KuehnThomas AltmannAndrew GenneryGraham JacksonAttila KumanovicsKarl V VoelkerdingSeraina Prader et al.

A1 Journal Article in NATURE COMMUNICATIONS

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies : an international multicenter retrospective study

Federica BarzaghiLaura Cristina Amaya HernandezBenedicte NevenSilvia RicciZeynep Yesim KucukJack J BleesingZohreh NademiMary Anne SlatterErlinda Rose UlloaAnna Shcherbina et al.

A1 Journal Article in JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Properdin deficiency in a child presenting with recurrent lower respiratory tract infections

Leen MoensKatrijn ArtsGiorgia BucciolPatrick F. StordeurFilomeen HaerynckIsabelle Meyts

Structural activation of pro-inflammatory human cytokine IL-23 by cognate IL-23 receptor enables recruitment of the shared receptor IL-12Rβ1

Yehudi BlochLaura BouchareychasRomain MerceronKatarzyna SkladanowskaLien Van den BosscheSammy DetrySrinath GovindarajanDirk ElewautFilomeen HaerynckMelissa Dullaers et al.

A1 Journal Article in IMMUNITY

The complex differential diagnosis underlying fungal infections : a clinical practice guideline regarding persistent, recurrent or invasive candidiasis

Levi HosteDelfien BogaertMarieke De BruyneVictoria Bordon MariaPetra SchelstraeteCarolien BonroySimon TavernierFilomeen Haerynck

When one rare disease hides another : Kartagener syndrome masking FMF

Levi HosteFrans De BaetsSabine Van daelePetra SchelstraeteMieke BoonMarieke De BruyneMelissa DullaersFrauke CoppietersFilomeen Haerynck

A1 Journal Article in CLINICAL PEDIATRICS

2017

A CARD9 Turkisch founder mutation disrupts NF-κB signaling by inhibiting Bcl10 recruitment

Marieke De BruyneLevi HosteDelfien BogaertMélanie MigaudDeborah KonopnickiBart LambrechtRudi BeyaertElfride De BaereAnne PuelJean-Christophe Goffard et al.

A CARD9 founder mutation p.Arg70Trp in Belgian and French patients of Turkish origin with a spectrum of chronic mucocutaneous and invasive fungal infections

Marieke De BruyneDelfien BogaertLevi HosteMélanie MigaudJean-Christophe GoffardAnne PuelElfride De BaereFilomeen HaerynckMelissa Dullaers

CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment

Marieke De BruyneDelfien BogaertLevi HosteMélanie MigaudJean-Christophe GoffardDeborah KonopnickiBart LambrechtRudi BeyaertElfride De BaereAnne Puel et al.

CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment

Marieke De BruyneDelfien BogaertLevi HosteMélanie MigaudJean-Christophe GoffardDeborah KonopnickiBart LambrechtRudi BeyaertElfride De BaereAnne Puel et al.

CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment

Marieke De BruyneLevi HosteDelfien BogaertMélanie MigaudJean-Christophe GoffardDeborah KonopnickiBart LambrechtRudi BeyaertElfride De BaereAnne Puel et al.

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes

Delfien BogaertMelissa DullaersHye Sun KuehnBart LeroyJulie E NiemelaHans De WildeSarah De SchryverMarieke De BruyneFrauke CoppietersBart Lambrecht et al.

A1 Journal Article in SCIENTIFIC REPORTS

Exercise performance and quality of life in children with cystic fibrosis and mildly impaired lung function : relation with antibiotic treatments and hospitalization

Kristof VandekerckhoveMichiel KeyzerJasper CornetteIlse CoomansFilip PylFrans De BaetsPetra SchelstraeteFilomeen HaerynckDaniël De WolfSabine Van daele et al.

A1 Journal Article in EUROPEAN JOURNAL OF PEDIATRICS

Molecular diagnosis of Common Variable Immunodeficiency and related antibody disorders : an integrated immunological and genetic approach

Delfien BogaertElfride De BaereFilomeen HaerynckMelissa Dullaers

Molecular genetics of common variable immunodeficiency

Delfien BogaertMelissa DullaersElfride De BaereFilomeen Haerynck

Bookchapter in eLS

Screening protocols to monitor respiratory status in primary immunodeficiency disease : findings from a European survey and subclinical infection working group

S. JollesS. Sanchez-RamonI. QuintiP. Soler-PalacinC. AgostiniB. FlorkinL. -J. CoudercN. BrodszkiA. JonesH. Longhurst et al.

A1 Journal Article in CLINICAL AND EXPERIMENTAL IMMUNOLOGY

The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives

Delfien BogaertMarieke De BruyneVeronique DebackerPauline DepuydtKatleen De PreterCarolien BonroyJan PhilippéVictoria Bordon MariaBart LambrechtTessa Kerre et al.

A1 Journal Article in HAEMATOLOGICA

The immunophenotypical fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives

Delfien BogaertMarieke De BruyneVeronique DebackerPauline DepuydtKatleen De PreterCarolien BonroyJan PhilippéVictoria Bordon MariaBart LambrechtTessa Kerre et al.

To B or not to B matured : a novel IKAROS haploinsufficiency kindred with incomplete penetrance both at clinical and cellular level

Delfien BogaertHye Sun KuehnCarolien BonroyKatherine CalvoJo DehoorneArnaud VanlanderMarieke De BruyneVenetia BigleyPetra SchelstraeteFrans De Baets et al.

To B or not to B matured : a novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B cell maturation defects

Delfien BogaertHye Sun KuehnCarolien BonroyKatherine CalvoJo DehoorneArnaud VanlanderPetra SchelstraeteMarieke De BruyneUrszula CytlakVenetia Bigley et al.

2016

CVID, isolated IgG deficiency and isolated IgG subclass deficiency : clinical features and B cell maturation of the Ghent cohort

Delfien BogaertVeronique De BackerTessa KerreVictoria Bordon MariaBart LambrechtKarim VermaelenFrans De BaetsElfride De BaereMelissa DullaersFilomeen Haerynck

Chronic and invasive fungal infections in a family with CARD9 deficiency

Ana Alves de MedeirosEVELYNE LODEWICKDelfien BogaertFilomeen HaerynckSabine Van daeleBart LambrechtSarah BosmaLaure VanderdoncktOlivier LortholaryMélanie Migaud et al.

A1 Journal Article in JOURNAL OF CLINICAL IMMUNOLOGY

Chronic and invasive fungal infections in a family with CARD9 deficiency (vol 36, pg 204, 2016)

Ana Karina Alves de MedeirosEVELYNE LODEWICKDelfien BogaertFilomeen HaerynckSabine Van daeleBart LambrechtSarah BosmaLaure VanderdoncktOlivier LortholaryMélanie Migaud et al.

Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation

Hanne Van GorpPedro Henrique Viana SaavedraNathalia Moraes de VasconcelosNina Van OpdenboschLieselotte Vande WalleMagdalena MatusiakGiusi PrencipeAntonella InsalacoFilip Van HauwermeirenDieter Demon et al.

A1 Journal Article in PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

Delfien BogaertMelissa DullaersBart LambrechtKarim VermaelenElfride De BaereFilomeen Haerynck

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Julie ToubianaSatoshi OkadaJulia HillerMatias OleastroMacarena Lagos GomezJuan Carlos Aldave BecerraMarie Ouachée-ChardinFanny FouyssacKatta Mohan GirishaAmos Etzioni et al.

A1 Journal Article in BLOOD

Inflammasomes in inflammatory disease

Hanne Van GorpPedro Henrique Viana SaavedraNathalia Moraes de VasconcelosNina Van OpdenboschLieselotte Vande WalleMagdalena MatusiakFilip Van HauwermeirenG. PrencipeDelfien BogaertMelissa Dullaers et al.

JAK2 deficiency as a novel cause of impaired Th17 immunity

Filomeen HaerynckDelfien BogaertElfride De BaereKristof Van SchilFrauke CoppietersMarieke De BruyneMargot HagendorensTessa KerreFrans De BaetsVictoria Bordon Maria et al.

Persistent rotavirus diarrhea post-transplant in a novel JAK3-SCID patient after vaccination

Delfien BogaertKristof Van SchilTom TaghonVictoria Bordon MariaCarolien BonroyMelissa DullaersElfride De BaereFilomeen Haerynck

A1 Journal Article in PEDIATRIC ALLERGY AND IMMUNOLOGY

RC3H1 mutation with increased ICOS expression causes an autoinflammatory syndrome

Filomeen HaerynckPATRICK VERLOODelfien BogaertJoél SmetArnaud VanlanderVictoria Bordon MariaHelene VerhelstRudy Van CosterBjörn MentenMelissa Dullaers

Recurrent cutaneous abscesses as the presenting manifestation of STAT1 gain-of-function mutation

Levi HosteMarieke De BruyneDelfien BogaertElfride De BaereCarolien BonroyPetra SchelstraeteMelissa DullaersTom VercruysseFilomeen Haerynck

The immunophenotypical landscape of patients with primary antibody deficiencies and their asymptomatic first-degree relatives : arguments for a multifactorial aetiology

Delfien BogaertPauline DepuydtKatleen De PreterCarolien BonroyJan PhilippéVictoria Bordon MariaTessa KerreBart LambrechtAndrea CeruttiKarim Vermaelen et al.

When two rare diseases coincide : Kartagener Syndrome and Familial Mediterranean Fever

Levi HosteFrans De BaetsSabine Van daelePetra SchelstraeteMieke BoonElfride De BaereFrauke CoppietersFilomeen Haerynck

2015

A novel Janus kinase 3 (JAK3) mutation in a patient with severe combined immunodeficiency

Delfien BogaertKristof Van SchilTom TaghonVictoria Bordon MariaMelissa DullaersElfride De BaereFilomeen Haerynck

A novel STAT1 mutation in a patient with pneumocystis jiroveci and chronic mucocutaneous candidiasis

Delfien BogaertMelissa DullaersJens StaalSarah GerloElien VandermarliereVeronique De BackerVictoria Bordon MariaKATHLEEN DE WAELEIsabelle MeytsLeen Moens et al.

Achromobacter xylosoxidans/ruhlandii colonized CF patients have more hospitalisations and IV antibiotic days

Frans De BaetsPetra SchelstraeteFilomeen HaerynckL Van SimaeyMario VaneechoutteSabine Van daele

Acquired partial lipodystrophy : a rare clinical presentation of a complement deficiency

Delphine BogaertMelissa DullaersJohan Vande WallePatrick StordeurElke GovaereFilomeen Haerynck

Colistin and neurotoxicity : recommendations for optimal use in cystic fibrosis patients

Barbara ClausSylvie SnauwaertFilomeen HaerynckSabine Van daeleFrans De BaetsPetra Schelstraete

A1 Journal Article in INTERNATIONAL JOURNAL OF CLINICAL PHARMACY

Pseudomonas aeruginosa genotyping: predicting transition to chronic colonization in cystic fibrosis patients

L JonckheereMario VaneechoutteFrans De BaetsSabine Van daeleFilomeen HaerynckLeen Van SimaeyPetra Schelstraete

Screening protocols to detect subclinical respiratory infections in PID : findings from a European survey

S. JollesS. Sanchez-RamonI QuintiP. Soler-PalacinC. AgostiniB. FlorkinL-J CoudercN. BrodszkiA. JonesH. Longhurst et al.

2014

A case of dendritic cell, monocyte, B and NK lymphoid deficiency (DCML)

Melissa DullaersTessa KerreFrauke CoppietersDorine SichienNancy De CabooterVeronique DebackerReinhart SpeeckaertPaul CouckeElias DebaereFilomeen Haerynck et al.

A novel Stat1 mutation leading to hyperphosphorylation in a patient with Pneumocystis jjiroveci and chronic mucocutaneous candidiasis

Melissa DullaersJens StaalSarah GerloElien VandermarliereV DebackerVictoria Bordon MariaK De WaeleI MeytsL MoensX Bossuyt et al.

ABPA syndrome (ABPAs) in CF : FEV1 decline, infectious exacerbations and BMI before and after the year of diagnosis (index year), a case control study

Frans De BaetsS WanyamaLinde De KeyzerFilomeen HaerynckPetra SchelstraeteM ThomasSabine Van daele

Achromobacter xylosoxidans induced bronchiolitis obliterans in cystic fibrosis

Frans De BaetsPetra SchelstraeteFilomeen HaerynckStephanie Van BiervlietRuth De BruyneH FranckxSabine Van daele

A1 Journal Article in PEDIATRIC PULMONOLOGY

Acquired partial lipodystrophy : a rare clinical presentation of a complement deficiency

Delfien BogaertMelissa DullaersJohan Vande WallePatrick StordeurElke GovaereFilomeen Haerynck

Aspergillus nodi in cystic fibrosis (CF) patients: a rare entity: report of two pediatric cases

Petra SchelstraeteSabine Van daeleFilomeen HaerynckFrans De Baets

Clinical presentation of hyper-IgE syndrome in a family with impaired IL-22 production and STAT3 phosphorylation

Filomeen HaerynckDelfien BogaertElfride De BaereBart LambrechtKarim VermaelenVeronique DebackerKristof Van SchilFrans De BaetsPetra SchelstraeteVictoria Bordon Maria et al.

FLH type 5 caused by a novel mutation in STXBP2 gene : an unusual cause of failure to thrive and diarrhea in infancy

Filomeen HaerynckRuth De BruyneMelissa DullaersROSELYNE UWERABert CallewaertElfride De BaereMyriam Van WinckelStephanie Van BiervlietSebastien van de VeldeVictoria Bordon

Innate immunity in chronic infectious and inflammatory disease

Filomeen HaerynckFrans De BaetsBart Loeys

Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication

Sabine VerbeekOlivier VanakkerRudy MercelisAF LipkaFilomeen HaerynckMelissa DullaersPATRICK VERLOORudy Van CosterHelene Verhelst

A1 Journal Article in EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Pneumococcal antibody levels in children with PID receiving immunoglobulin

David TuerlinckxBenoit FlorkinAlina FersterIris De SchutterChristophe ChantrainFilomeen HaerynckPierre PhilippetPaul StrengersRuth Laub

A1 Journal Article in PEDIATRICS

Screening protocols to detect respiratory infections in PID : findings from a European Survey and subclinical infection working group

S. JollesS. Sanchez-RamonI. QuintiP. Soler-PalacinC. AgostiniB. FlorkinL. J. CoudercN. BrodszkiA. JonesH. Longhurst et al.

The European Society for Immunodeficiencies (ESID) registry 2014

B. Grimbacher[missing] ESID Registry Working PartyFilomeen Haerynck

A1 Journal Article in CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Use of an integrative classification system and next-generation sequencing strategies for gene identification in common variable immunodeficiency disorder (CVID)

Delfien BogaertMelissa DullaersFilomeen HaerynckElfride De BaereKarim Vermaelen

2013

An unusual cause of failure to thrive and diarrhea in infancy

ROSELYNE UWERAFilomeen HaerynckVictoria Bordon MariaStephanie Van BiervlietSaskia Vande VeldeMyriam Van WinckelRuth De Bruyne

Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis

Filomeen HaerynckPatrick StordeurJohan Vande WalleRudy Van CosterVictoria Bordon MariaFrans De BaetsPetra SchelstraeteCédric JavauxMarie-Rose BouvryVéronique Fremeaux-Bacchi et al.

A1 Journal Article in JOURNAL OF CLINICAL IMMUNOLOGY

Eradication therapy for Pseudomonas aeruginosa colonization episodes in cystic fibrosis patients not chronically colonized by P. aeruginosa

Petra SchelstraeteFilomeen HaerynckFrans De BaetsSARAH DESEYNESabine Van daele

A1 Journal Article in JOURNAL OF CYSTIC FIBROSIS

Genetic variations in toll-like receptor pathway and lung function decline in Cystic Fibrosis patients

Filomeen HaerynckJM Mahachie JohnKristel Van SteenPetra SchelstraeteSabine Van daeleBart LoeysMira Van ThielenI De CanckLieve NuytinckFrans De Baets

A1 Journal Article in HUMAN IMMUNOLOGY

Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome

Heidi SchaballieMarleen RenardChristiane VermylenIsabelle ScheersNicole RevencuLuc RegalDavid CassimanLieve SevenantsIlse HoffmanAnniek Corveleyn et al.

A1 Journal Article in EUROPEAN JOURNAL OF PEDIATRICS

2012

Belgian Shwachman-Diamond syndrome cohort update: misdiagnosis as Jeune syndrome and CMV triggerd hemophagocytosis

H SchaballieM RenardX BossuytC VermylenI HoffmanI ScheersN RevencuG MatthijsL SevenantsVictoria Bordon Maria et al.

Birdshot-like chorioretinopathy in common variable immunodeficiency

Véronique de MaeyerBart LeroyTessa KerreLiesbeth FerdinandeFilomeen HaerynckFrans De BaetsPhilippe Kestelyn

A2 Journal Article in RETINAL CASES & BRIEF REPORTS

Estimating the protective concentration of anti-pneumococcal capsular polysaccharide antibodies in paediatric patients with primary immunodeficiency disease (PID) treated with intravenous immunoglobulin (Multigam®)

D TuerlinckxB FlorkinI de SchutterC ChantrainFilomeen HaerynckP PhilippetR LaubA Ferster

Genetic variations in toll-like receptor pathway and lung function decline in cystic fibrosis patients

Filomeen HaerynckKristel Van SteenJM JohnPetra SchelstraeteSabine Van daeleBart LoeysM Van ThielenI De CanckFrans De Baets

Malacia, inflammation and bronchoalveolar lavage culture in children with persistent respiratory symptoms

Frans De BaetsI De SchutterC AartsFilomeen HaerynckSabine Van daeleE De WachterA MalfrootPetra Schelstraete

A1 Journal Article in EUROPEAN RESPIRATORY JOURNAL

Polymorphisms in the lectin pathway genes as a possible cause of early chronic Pseudomonas aeruginosa colonization in cystic fibrosis patients

Filomeen HaerynckKristel Van SteenT CattaertBart LoeysSabine Van daelePetra SchelstraeteKathleen ClaesM Van ThielenI De CanckJM Mahachie John et al.

A1 Journal Article in HUMAN IMMUNOLOGY

Quantifying total IgG and IgG subclasses (peak and trough) in primary immunodeficiency paediatric patients treated with intravenous immunoglobulin (Multigam®) and relation with serospecific antipneumococcal antibodies

D TuerlinckxB FlorkinI de SchutterC ChantrainFilomeen HaerynckP PhilippetR LaubA Ferster

SCID-like symptoms in a patient with chronic mucocutaneous candidiasis caused by STAT1 mutation

Melissa DullaersVictoria Bordon MariaK De WaeleI MeytsL MoensX BossuytKarim VermaelenBart LambrechtF De BaetsFilomeen Haerynck

Successful treatment with sirolimus in patients with refractory autoimmune lymphoproliferative syndrome

Filomeen HaerynckK LoggheVictoria Bordon MariaB NevenF Rieux-LaucatFrans De Baets

2011

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

Jana Pachlopnik SchmidDanielle CanioniDespina MoshousFabien TouzotNizar MahlaouiFabian HauckHirokazu KaneganeEduardo Lopez-GranadosEster MejstrikovaIsabelle Pellier et al.

A1 Journal Article in BLOOD

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation

Aude Magerus-ChatinetBénédicte NevenMarie-Claude StolzenbergCécile DaussyPeter D ArkwrightNina LanzarottiCatherine SchaffnerSophie Cluet-DennetiereFilomeen HaerynckGérard Michel et al.

A1 Journal Article in JOURNAL OF CLINICAL INVESTIGATION

Recommended indications for the administration of polyclonal immunoglobulin preparations

M DelforgeCM FarberP SpäthS KaveriT WitteSA MisbahR HübnerFilomeen HaerynckD LatinneL Muylle et al.

A1 Journal Article in ACTA CLINICA BELGICA

2010

Comparison of culture and qPCR for the detection of Pseudomonas aeruginosa in not chronically infected cystic fibrosis patients

Pieter DeschaghtPetra SchelstraeteGuido Lopes dos Santos SantiagoLeen Van SimaeyFilomeen HaerynckSabine Van daeleElke De WachterAnne MalfrootPatrick LebecqueChristiane Knoop et al.

A1 Journal Article in BMC MICROBIOLOGY

Genotype based evaluation of Pseudomonas aeruginosa eradication treatment success in cystic fibrosis patients

Petra SchelstraetePieter DeschaghtLeen Van SimaeySabine Van daeleFilomeen HaerynckMario VaneechoutteFrans De Baets

A1 Journal Article in JOURNAL OF CYSTIC FIBROSIS

Milk protein and Oil-Red-O staining of alveolar macrophages in chronic respiratory disease of infancy

Frans De BaetsClaudia AartsSabine Van daeleFilomeen HaerynckElke De WachterIris De SchutterAnne MalfrootPetra Schelstraete

A1 Journal Article in PEDIATRIC PULMONOLOGY

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

Ludovic de BeaucoudreyArina SamarinaJacinta BustamanteAurélie CobatStéphanie Boisson-DupuisJacqueline FeinbergSaleh Al-MuhsenLucile JannièreYoann RoseMaylis de Suremain et al.

A1 Journal Article in MEDICINE

2009

A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian susceptibility to mycobacterial diseases in European descendants

J YancoskiC RoccoA BernasconiM OleastroL BezrodnikC VrátnicaFilomeen HaerynckSD Rosenzweig

A1 Journal Article in INFECTION GENETICS AND EVOLUTION

A missence mutation in complement factor I associated with recurrent aseptic meningoencephalitis

Joke DehoorneFilomeen HaerynckBart LoeysHelene VerhelstF MascartAnn RaesJohan Vande Walle

Genotype based evaluation of eradication treatment success for new Pseudomonas aeruginosa infections in cystic fibrosis patients

Petra SchelstraetePieter DeschaghtLeen Van SimaeySabine Van daeleFilomeen HaerynckMario VaneechoutteFrans De Baets

Niet alles wat piept bij kinderen is astma

Filomeen HaerynckFrans De Baets

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

2008

Complement factor B deficiency associated with recurrent asceptic meningitis

Jo DehoorneAstrid RaesFilomeen HaerynckAnn De GuchtenaereJohan Vande WalleRik Joos

Complement factor B deficiency associated with recurrent asceptic meningitis

Filomeen HaerynckPetra SchelstraeteJohan Vande WalleRudy Van CosterVictoria Bordon MariaF MascartJo Dehoorne

Disseminated Mycobacterium avium Infection in a Patient with a Novel Mutation in the Interleukin-12 Receptor-beta 1 Chain

Filomeen HaerynckSteve M. HollandSergio D. RosenzweigJean-Laurent CasanovaPetra SchelstraeteFrans De Baets

A1 Journal Article in JOURNAL OF PEDIATRICS

Mutation 1623_1624delGCinsTT and IL-12Rb1 deficiency : a mutational founder effect on the most frequently affected gene for Mendelian susceptibility to mycobacterial disease

Judith YancoskiCarlos RoccoAndrea BernasconiMatias OteastroFilomeen HaerynckLiliana BezrodnikSergio D. Rosenzweig

Severe corticosteroid-dependent asthma in association with eczema and type 1 diabetes mellitus as an early manifestation of the IPEX syndrome: a case report

Filomeen HaerynckFrans De BaetsPetra SchelstraeteSabine Van daeleCatharina DhoogeK De WaeleVictoria Bordon Maria

2007

Achromobacter xylosoxidans in cystic fibrosis: Prevalence and clinical relevance

Frans De BaetsP SCHELSTRAETESabine Van daeleFilomeen HaerynckMario Vaneechoutte

A1 Journal Article in JOURNAL OF CYSTIC FIBROSIS

Limbic encephalitis as presentation of a SAP deficiency

Helene VerhelstRudy Van CosterNele BockaertGenevieve LaureysSylvie LatourA FischerFilomeen Haerynck

Editorial material

Single nucleotide polymorphisms in genes of the innate immunity in cystic fibrosis patients: Correlation with lung function and pseudomonas aeruginosa colonisation

Filomeen HaerynckSabine Van daelePetra SchelstraeteE DE MEESTERR ROSSAUFrans De Baets

2006

Limbic encephalitis as presentation of a SAP deficiency

Helene VerhelstRudy Van CosterN BOCKAERTGenevieve LaureysAlexandra FischerFilomeen Haerynck

2005

Epidemiology of Pseudomonas aeruginosa in a cystic fibrosis rehabilitation centre

Sabine Van daeleH FRANCKXRita VerhelstPetra SchelstraeteFilomeen HaerynckI VAN SIMAEYGeert ClaeysMario VaneechoutteFrans De Baets

A1 Journal Article in EUROPEAN RESPIRATORY JOURNAL

2004

Asphyxiating tracheal bronchogenic cyst

Frans De BaetsSabine Van daelePetra SchelstraeteFilomeen HaerynckFrank VermassenC BROERS

A1 Journal Article in PEDIATRIC PULMONOLOGY

1998

Factors influencing long term persistence of sinus rhythm after a first electrical cardioversion for atrial fibrillation

Mattias DuytschaeverFilomeen HaerynckRené TavernierLuc Jordaens

A1 Journal Article in PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY

1997

Changes in the QT interval and its adaptation to rate, assessed with continuous electrocardiographic recordings in patients with ventricular fibrillation, as compared to normal individuals without arrhythmias

René TavernierLuc JordaensFilomeen HaerynckE DeryckeDenis Clement

A1 Journal Article in EUROPEAN HEART JOURNAL

1996

A putative tumor suppressor gene involved in Merkel cell carcinoma maps between p58 and D172

Franki SpelemanML GeertsFilomeen HaerynckBart DermautNadine Van Roy