When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF.

Levi Hoste , Frans De Baets , Sabine Van Daele , Petra Schelstraete
Clinical Pediatrics 57 ( 8) 981 -985

2018
Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene

Lynn Backers , Bram Parton , Marieke De Bruyne , Simon J. Tavernier
Clinical Genetics 99 ( 2) 292 -297

2021
A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation.

Marieke De Bruyne , Levi Hoste , Delfien J Bogaert , Lien Van den Bossche
Frontiers in Immunology 9 2366

20
2018
Genes at the Crossroad of Primary Immunodeficiencies and Cancer.

Charlotte Derpoorter , Victoria Bordon , Geneviève Laureys , Filomeen Haerynck
Frontiers in Immunology 9 2544

3
2018
BIRDSHOT-LIKE CHORIORETINOPATHY IN COMMON VARIABLE IMMUNODEFICIENCY

Véronique de Maeyer , Bart P. Leroy , Tessa Kerre , Liesbeth Ferdinande
Retinal Cases & Brief Reports 6 ( 4) 358 -364

3
2012
Plasma C3d levels as a diagnostic marker for complete complement factor I deficiency.

Leslie Naesens , Julie Smet , Simon J. Tavernier , Petra Schelstraete
The Journal of Allergy and Clinical Immunology 147 ( 2)

2021
Pneumococcal Antibody Levels in Children With PID Receiving Immunoglobulin.

David Tuerlinckx , Benoit Florkin , Alina Ferster , Iris De Schutter
Pediatrics 133 ( 1) 154 -162

14
2014
A Computational Pipeline for the Diagnosis of CVID Patients

Annelies Emmaneel , Delfien J. Bogaert , Sofie Van Gassen , Simon J. Tavernier
Frontiers in Immunology 10 2009

3
2019
Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.

Scott B Drutman , Filomeen Haerynck , Franklin L Zhong , David Hum
Proceedings of the National Academy of Sciences of the United States of America 116 ( 38) 19055 -19063

29
2019
Revisiting Human IL-12Rβ1 Deficiency: A Survey of 141 Patients From 30 Countries

Ludovic De Beaucoudrey , Arina Samarina , Jacinta Bustamante , Aurélie Cobat
Medicine 89 ( 6) 381 -402

282
2010
Complete Factor I Deficiency Due to Dysfunctional Factor I with Recurrent Aseptic Meningo-Encephalitis

Patrick Stordeur , Johan Vandewalle , Rudy Van Coster , Victoria Bordon
Journal of Clinical Immunology 33 ( 8) 1293 -1301

13
2013
Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency.

Ana Karina Alves de Medeiros , Evelyn Lodewick , Delfien JA Bogaert , Filomeen Haerynck
Journal of Clinical Immunology 36 ( 3) 204 -209

53
2016
Erratum to: Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency

Ana Karina , Alves de Medeiros , Evelyn Lodewick , J Delfien
Journal of Clinical Immunology 36 ( 5) 528 -528

1
2016
Improved Standardization of Flow Cytometry Diagnostic Screening of Primary Immunodeficiency by Software-Based Automated Gating.

Eleni Linskens , Annieck M. Diks , Jana Neirinck , Martín Perez-Andres
Frontiers in Immunology 11 584646 -584646

2020
Case Report: Convalescent Plasma, a Targeted Therapy for Patients with CVID and Severe COVID-19.

Karel F. A. Van Damme , Simon Tavernier , Nele Van Roy , Elisabeth De Leeuw
Frontiers in Immunology 11 596761

6
2020
Managing Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders: e-GLILDnet International Clinicians Survey.

Annick A. J. M. van de Ven , Tiago M. Alfaro , Alexandra Robinson , Ulrich Baumann
Frontiers in Immunology 11 606333

1
2020
Comparison of culture and qPCR for the detection of Pseudomonas aeruginosa in not chronically infected cystic fibrosis patients

Pieter Deschaght , Petra Schelstraete , Guido Lopes dos Santos Santiago , Leen Van Simaey
BMC Microbiology 10 ( 1) 245 -245

19
2010
GATA2 deficiency and haematopoietic stem cell transplantation: challenges for the clinical practitioner

Delfien J Bogaert , Genevieve Laureys , Leslie Naesens , Dominiek Mazure
British Journal of Haematology 188 ( 5) 768 -773

8
2020
Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation

Aude Magerus-Chatinet , Bénédicte Neven , Marie-Claude Stolzenberg , Cécile Daussy
Journal of Clinical Investigation 121 ( 1) 106 -112

79
2011
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome

Heidi Schaballie , Marleen Renard , Christiane Vermylen , Isabelle Scheers
European Journal of Pediatrics 172 ( 5) 613 -622

10
2013