Publication


Publications des équipes du CEREDIH
ALPS-FAS PATIENTS HAVE AN ABNORMAL REGULATORY T CELL PHENOTYPE BUT DISPLAY NORMAL nTREG SUPPRESSIVE FUNCTION ON T CELL PROLIFERATION 
Mazerolles F et al
2018
Front Immunol
Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature. 
Gobin KS
2018
Front Pediatr
Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease 
Esteve-Solé A et al
2018
Crit Rev Clin Lab Sci.
Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection 
Zhang SY
2018
Cell
Hematopoietic stem cell gene therapy for IFNγR1 deficiency protects mice from mycobacterial infections. 
Hetzel M et al
2018
Blood
IRF4 haploinsufficiency in a family with Whipple's disease 
Guerin A et al
2018
Elife
Kinesin-1: A New Actor Involved in Platelet Secretion and Thrombus Stability 
Adam F et al.
2018
Arterioscler Thromb Vasc Biol
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study 
Barzaghi F et al
2018
J Allerg Clin Immunol
Disease evolution and response to rapamycin in Activated PI3Kδ Syndrome: the ESID-APDS registry 
Maccari M.E. et al.
2018
Front Immunol
Intestinal dysbiosis in Inflammatory Bowel Disease associated with primary immunodeficiency 
Sokol H et al
2018
J Allergy Clin Immunol
Daratumumab in life-threatening autoimmune hemolytic anemia following hematopoietic stem cell transplantation 
Schuetz C et al
2018
Blood Adv.
Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency 
Briand C et al
2018
Ann Rheum Dis
Mendelian susceptibility to mycobacterial disease: 2014-2018 update 
Rosain J et al
2018
Immunol Cell Biol
Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient 
Arango-Franco CA et al
2018
J Clin Immunol
T cell dynamics and response of the microbiota after gene therapy to treat X-linked severe combined immunodeficiency 
Clarke EL et al.
2018
Genome Med
T cell defects in patients with ARPC1B germline mutations account for their combined immunodeficiency. 
Brigida I et al
2018
Blood
Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study) 
Audrain M et al
2018
J Clin Immunol
Varicella-zoster virus CNS vasculitis and RNA polymerase III gene mutation in identical twins 
Carter-Timofte ME et al
2018
Neurol Neuroimmunol Neuroinflamm
Interest of immunodeficiency screening in adult after admission in medical intensive care unit for severe infection, a retrospective and a prospective study (ICUSPID) 
Baldolli A et al
2018
Infection
Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome 
Law-Ping-Man S et al
2018
Pediatr Dermatol
A Brief Historical Perspective on the Pathological Consequences of Excessive Type I Interferon Exposure In vivo 
Crow YJ et al
2018
J Clin Immunol
A 44 year old female with overwhelming sepsis 
Seligman SJ et al
2018
Clin Infect Dis
Innate Lymphoid Cells: 10 Years On 
Vivier E et al
2018
Cell
Inherited CARD9 Deficiency: Invasive Disease Caused by Ascomycete Fungi in Previously Healthy Children and Adults 
Corvilain E et al
2018
J Clin Immunol
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency 
Hernandez N et al
2018
J Exp Med
Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders 
Trotta L et al
2018
Orphanet J Rare Dis
Mechanism of dysfunction of human variants of the IRAK4 kinase and a role for its kinase activity in interleukin-1 receptor signaling 
De S et al
2018
J Biol Chem.
Proinflammatory cytokine response toward fungi but not bacteria in chronic granulomatous disease 
Gazendam RP et al
2018
J Allergy Clin Immunol
Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency 
Kong XF et al
2018
Nat Immunol
Treatment dilemmas in asymptomatic children with primary haemophagocytic lymphohistiocytosis 
Lucchini G et al
2018
Blood
Human hyper-IgE syndrome: singular or plural? 
Zhang Q et al
2018
Mamm Genome
Long-term follow-up of an Activated PI3K-δ Syndrome 2 patient presenting with an agammaglobulinemia phenotype 
Nguyen Y et al
2018
Ann Allergy Asthma Immunol
A Novel Homozygous Mutation With Different Clinical Presentations in 2 IRAK-4-Deficient Siblings: First Case With Recurrent Salmonellosis and Non-Hodgkin Lymphoma 
Gokturk B et al
2018
J Allerg Clin Immunol
Lessons learned from the study of human inborn errors of innate immunity 
Bucciol G et al
2018
J Allerg Clin Immunol
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons 
Bolze A et al
2018
Proc Natl Acad Sci U S A
The human CIB1–EVER1–EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses 
de Jong SJ et al
2018
J Exp Med
Epidermodysplasia verruciformis: Genetic heterogeneity and novel EVER1 and EVER2 mutations revealed by genome-wide analysis 
Youssefian L et al
2018
J Invest Dermatol
A case of reversible pulmonary arterial hypertension associated with incontinentia pigmenti 
Atallah V et al
2018
Pulm Circ
Severe BCG-osis Misdiagnosed as Multidrug-Resistant Tuberculosis in an IL-12Rβ1-Deficient Peruvian Girl 
Esteve-Sole A et al
2018
J Clin Immunol
Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita 
Fioredda F et al
2018
Br J Haematol
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency 
Rosain J et al
2018
J Clin Immunol
T-Cell Receptor Excision Circles in HIV-Exposed, Uninfected Newborns Measured During a National Newborn Screening Program for Severe Combined Immunodeficiency 
Warszawski J et al
2018
J Pediatr
Outcome of domino hematopoietic stem cell transplantation in humans - an international case series 
Belderbos ME et al.
2018
J Allerg Clin Immunol
Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses 
de Jong SJ et al
2018
Front Microbiol.
Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation 
Neves JF et al
2018
J Pediatr Hematol Oncol
CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency 
Requena D et al
2018
Front. Immunol.
TTC7A mutation must be considered in patients with repeated intestinal atresia associated with early inflammatory bowel disease: Two new case reports and a literature review 
Fayard J et al
2018
Arch Ped
The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions 
Rieux-Laucat F et al
2018
J Clin Immunol
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity 
Béziat V et al
2018
Sci Immunol
ZNF341 controls STAT3 expression and thereby immunocompetence 
Frey-Jakobs S et al
2018
Sci Immunol
Efficacy of oral sirolimus as salvage therapy in refractory lichen planus associated with immune deficiency 
Mahévas T et al
2018
Br J Dermatol
Genetic screening of male patients with primary hypogammaglobulinemia can guide diagnosis and clinical management 
Vince N et al
2018
Send to Hum Immunol
Microbial ecology perturbation in human IgA deficiency 
Fadlallah J et al
2018
Sci Transl Med
Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency 
Boutboul D et al
2018
J Clin Invest
Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency 
Sologuren I et al
2018
J Clin Immunol
Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome 
Vély F et al
2018
Front Immunol
Long-term management of leukocyte adhesion deficiency type III without hematopoietic stem cell transplantation 
Saultier P et al
2018
Haematologica
STAT3 Gain of Function: A New Kid on the Block in Interstitial Lung Diseases 
Fabre A et al
2018
Am J Respir Crit Care Med
Mucocutaneous IL-17 immunity in mice and humans: host defense vs. excessive inflammation 
Li J, Casanova JL & Puel A
2018
Mucosal Immunol
Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient 
Glanzmann B et al
2018
J Clin Immunol
Model of population pharmacokinetics of cidofovir in immunocompromised children with cytomegalovirus and adenovirus infection 
Neant N et al
2018
J Antimicrob Chemother
Next Generation Phenotyping using narrative reports in a rare disease Clinical Data Warehouse 
Garcelon N et al
2018
Orphanet J Rare Dis
Severe combined immunodeficiency in Sting V154M/WT mice 
Bouis D et al
2018
J Allerg Clin Immunol
PROMIDISalpha: a T cell receptor alpha (TCRalpha) signature associated with 2 immunodeficiencies caused by V(D)J recombination defects 
Berland A, Rosain J, Kaltenbach S et al
2018
J Allerg Clin Immunol
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity 
Picard C et al
2018
J Clin Immunol
Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia 
Alodayani AN et al
2018
J Clin Immunol
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis 
Grandin V et al
2018
Hum Mutat
Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients 
Donadieu J et al
2018
Haematologica
Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study 
Charbit-Henrion F et al
2018
J Crohns Colitis
Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing 
Ono S
2018
Int J Hematol
Epithelial barrier dysfunction in Desmoglein-1 deficiency 
Polivka L et al
2018
J Allerg Clin Immunol
Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer. 
Vincent QB et al
2018
PLoS Negl Trop Dis
Diagnostic biologique des déficits immunitaires primitifs 
Miot C et al
2018
Revue Francophone des Laboratoires
Adaptive immunity by convergent evolution 
Casanova JL
2018
Nat. Rev. Immunol.
Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state 
Velasco G et al.
2018
Hum Mol Genet
Immunoglobulin G (IgG) and IgG subclass reference intervals in children, using Optilite® reagents 
Grunewald O
2018
Clin Chem Lab Med
Inherited Immunodeficiency : A New Association With Early-Onset Childhood Panniculitis 
Bader-Meunier B et al
2018
Pediatrics
Diagnosis and management of Aspergillus diseases: executive summary of the 2017 ESCMID-ECMM-ERS guideline 
Ullmann AJ et al
2018
Clin Microbiol Infect
Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations 
Lévy E et al.
2018
Clin Immunol
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency 
Boisson B et al
2017
J Clin Immunol
Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1. 
Pedraza-Sánchez S et al
2017
Front Immunol
Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies. 
Eren Akarcan S et al
2017
Case Reports Immunol.
Human genetics of infectious diseases: Unique insights into immunological redundancy 
Casanova JL, Abel L.
2017
Semin Immunol
Lymphadenopathy driven by TCR-Vγ8Vδ1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome. 
Vavassori S et al
2017
Blood Adv
Type I interferon-mediated autoinflammation due to DNase II deficiency 
Rodero MP et al
2017
Nat Commun
Loss of RASGRP1 in humans impairs T-cell expansion leading to Epstein-Barr virus susceptibility 
Winter S et al
2017
EMBO Mol Med
Successful haematopoietic stem cell transplantation in a case of pulmonary alveolar proteinosis due to GM-CSF receptor deficiency 
Frémond ML et al
2017
Thorax
VALUE OF THE OVERALL PNEUMOCOCCAL POLYSACCHARIDE RESPONSE IN THE DIAGNOSIS OF PRIMARY HUMORAL IMMUNODEFICIENCIES 
Lopez B et al.
2017
Frontiers Immunol
What do primary immunodeficiencies tell us about the essentiality/redundancy of immune responses? 
Fischer A et al
2017
Semin Immunol
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity 
Picard C et al.
2017
J Clin Immunol
Genetics and Pathogenesis of Hemophagocytic Lymphohistiocytosis 
de Saint Basile Geneviève, Despina Moshous, Alain Fischer
2017
Histiocytic Disorders pp 197-214
ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) 
Lian J et al
2017
J Allerg Clin Immunol
Late-onset hemophagocytic lymphohistiocytosis with neurological presentation 
Benezech S et al.
2017
Clin Case Rep
Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack 
Garcelon N et al.
2017
J Biomed Inform
RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease 
Mao H et al.
2017
J Allerg Clin Immunol
Gene Therapy: From Birth to Maturity Requires Commitment to Science and Ethics 
Fischer A.
2017
Hum Gene Ther
A recessive ataxia diagnosis algorithm for the next-generation sequencing era 
Renaud M et al.
2017
Ann Neurol
Kinetics of Radiological Response of Thoracic Invasive Fungal Disease in Chronic Granulomatous Disease 
Guery R et al
2017
J Clin Immunol
Pathogenesis of infections in HIV-infected individuals: insights from primary immunodeficiencies 
Zhang Q et al.
2017
Curr Opin Immunol
Burden of Poor Health Conditions and Quality of Life in 656 Children with Primary Immunodeficiency 
Barlogis V et al.
2017
J Pediatr
Helicobacter bilis-Associated Suppurative Cholangitis in a Patient with X-Linked Agammaglobulinemia 
Degand N et al
2017
J Clin Immunol
Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome 
Guffroy A
2017
J Clin Immunol
A cohort of French pediatric patients with primary immunodeficiencies: are patient preferences regarding replacement immunotherapy fulfilled in real-life conditions? 
Pasquet M et al
2017
Patient Prefer Adherence.
Prevalence of Primary Immunodeficiencies in France is underestimated 
Mahlaoui N et al.
2017
J Allerg Clin Immunol
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations 
Miot C et al
2017
Blood
Sclerosing cholangitis and intracranial lymphoma in a child with classical Wiskott-Aldrich syndrome. 
Petersheim D et al
2017
J Allerg Clin Immunol
Vaccination recommendations for the adult immunosuppressed patient: A systematic review and comprehensive field synopsis 
Lopez A et al
2017
J Autoimmun
Advances in the Care of Primary Immunodeficiencies (PIDs): from Birth to Adulthood 
Mahlaoui N et al
2017
J Clin Immunol
Life-Threatening Pneumopathy and U urealyticum in a STAT3-deficient Hyper-IgE Syndrome Patient 
Deverrière G et al.
2017
Pediatrics
Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity 
Israel L et al
2017
Cell
Functional and structural insight into properdin control of complement alternative pathway amplification 
Pedersen DV et al
2017
EMBO J
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency 
Cottineau et al
2017
J Clin Invest
Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes 
Cerboni et al
2017
J Exp Med
IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature 
Gobin K et al.
2017
Front. Pediatr.
CD21 deficiency in 2 siblings with recurrent respiratory infections and hypogammaglobulinemia 
Rosain J et al
2017
JACI in pract.
Respiratory Complications Lead to the Diagnosis of Chronic Granulomatous Disease in Two Adult Patients 
Colin de Verdière S et al.
2017
J Clin Immunol
A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis  
Speckmann C et al.
2017
J Allergy Clin Immunol
Different Immunological Pathways Underlie the Immune Response to Pneumococcal Polysaccharides 
Moens L et al.
2017
J Clin Immunol
Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1) 
Heurtier L
2017
Haematologica
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome 
Klemann C et al.
2017
Haematologica
Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection 
Izawa K et al.
2017
J Exp Med
Risk Factors in Children Older than 5 Years with Pneumococcal Meningitis: Data from a National Network 
Hénaff J et al.
2017
Pediatr Infect Dis J.
Strains responsible for invasive meningococcal disease in patients with terminal complement pathway deficiencies 
Rosain J et al.
2017
J. Infect. Dis.
Invasive Fungal Infection in Primary Immunodeficiencies Other Than Chronic Granulomatous Disease 
Garraffo A et al
2017
Current Fungal Infection Reports
Déficits immunitaires héréditaires de l’immunité innée et infections ( Innate immunity primary immunodeficiencies and infections) 
Duchamp M et al
2017
Arch. Ped.
Outcome of Hematopoietic Cell Transplantation for DNA-Double Strand Breakage Repair Disorders 
Slack J et al
2017
J Allerg Clin Immunol
Chronic Granulomatous Disease in Patients Reaching Adulthood: A Nationwide Study in France. 
Dunogue B, Pilmis B, et al
2017
Clin Infec Dis
Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies 
Fischer A et al
2017
J Allerg Clin Immunol
DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype 
Dard R et al
2017
Pediatr Allergy Immunol
Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti 
Bal E et al
2017
J Allerg Clin Immunol
Advances in the Care of Primary Immunodeficiencies (PIDs): from Birth to Adulthood 
Mahlaoui N et al
2017
J Clin Immunol
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency 
Boisson B et al
2017
J Clin Immunol
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts 
Della Mina E, Borghesi A et al
2017
Proc Natl Acad Sci U S A
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies 
Bousfiha AA et al
2017
J Clin Immunol
LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis 
Lévy E et al.
2017
Clin Immunol
Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene. 
Göktürk B et al
2016
Turk J Pediatr
Partir des malades, aboutir aux malades 
Fischer A, Bertrand Fontaine, José-Alain Sahel, Michel Wieviorka et Sylvain Kerbourc’h
2016
Socio
Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice 
Sepulveda FE et al.
2016
Blood
Specific T cells for the treatment of cytomegalovirus and/or adenovirus in the context of hematopoietic stem cell transplantation 
Creidy R
2016
J Allergy Clin Immunol
Activated PI3-kinase δ Syndrome: Long-term Follow-up after Cord Blood Transplantation. 
Ceraulo A et al
2016
J Clin Immunol
Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy (TMEM173 Mutation) 
Picard C et al.
2016
Chest
Mammalian target of rapamycin inhibition counterbalances the inflammatory status of immune cells in patients with chronic granulomatous disease. 
Gabrion A et al.
2016
J Allergy Clin Immunol
Exclusion of Patients with a Severe T-Cell Defect Improves the Definition of Common Variable Immunodeficiency (DEFI) 
Bertinchamp R et al
2016
J Allergy Clin Immunol Pract
Evidence of innate lymphoid cell redundancy in humans 
Vely F et al
2016
Nat. Immunol.
Cutaneous and Visceral Chronic Granulomatous Disease Triggered by a Rubella Virus Vaccine Strain in Children With Primary Immunodeficiencies 
Neven B et al
2016
Clin Infec Dis
Managing Inflammatory Manifestations in Patients with Chronic Granulomatous Disease (Review) 
Magnani A and Mahlaoui N
2016
Paediat. Drugs
Physical health conditions and quality of life in adults with primary immune deficiency diagnosed during childhood: a CEREDIH study 
Barlogis V et al.
2016
J Allergy Clin Immunol
Treatment of acute leukemia in children with ataxia telangiectasia (A-T) 
Schoenaker MH, Suarez F, Szczepanski T, Mahlaoui N, Loeffen JL
2016
Eur J Med Genet
Déficits immunitaires héréditaires de l’immunité innée et infections 
Duchamp M et al.
2016
Archives de Pédiatrie (Suppl.)
CVID-Low Circulating Natural Killer Cell Counts are Associated With Severe Disease in Patients With Common Variable Immunodeficiency 
Ebbo M et al
2016
EBioMedicine
Infections Revealing Complement Deficiency in Adults: A French Nationwide Study Enrolling 41 Patients 
Audemard-Verger A. et al.
2016
Medicine (Baltimore)
Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey. 
Sterlin D at al.
2016
J. Clin. Immunol.
Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease 
Nekooie-Marnany N et al
2016
J Clin Immunol
JAK inhibition in STING-associated interferonopathy 
Rodero Mp et al
2016
Ann Rheum Dis
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype 
Toubiana J et al
2016
Blood
Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis, colitis, or both 
Lanternier F et al
2016
J Allerg Clin Immunol
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency 
Lévy R et al
2016
Proc Natl Acad Sci U S A
The Genetic and Molecular Basis of Severe Combined Immunodeficiency 
Picard C et al
2015
Curr Ped Report
Cytotoxic granule secretion by lymphocytes and its link to immune homeostasis 
de Saint-Basile G et al.
2015
F1000 research
Evans syndrome in children: long-term outcome in a prospective French national observational cohort 
Aladjidi N et al
2015
Front Immunol
Immunité, génétique et médecine (Extraits de la leçon inaugurale du 15 mai 2014) 
Fischer A
2015
La Lettre du Collège de France
An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation 
Le Guen T et al
2015
J Allergy Clin Immunol
Recent advances in understanding the pathophysiology of primary T cell immunodeficiencies 
Fischer A
2015
Trends in Molecular Medicine
Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation 
Buchbinder D et al.
2015
J Allergy Clin Immunol
Next-Generation Sequencing for Diagnosis and Tailored Therapy: A Case Report of Astrovirus-Associated Progressive Encephalitis 
Fremont ML et al.
2015
J Pediatric Infect Dis Soc
Gene therapy for primary immunodeficiencies 
Fischer A et al
2015
Clin Genet
TNFA, ANXA11 and BTNL2 Polymorphisms in CVID Patients with Granulomatous Disease 
Boutboul D et al
2015
J Clin Immunol
Stem cell transplantation in severe congenital neutropenia: an analysis from the European Society for Blood and Marrow Transplantation 
Fioredda F. et al.
2015
Blood
The ratio of mean daily IgG increment/mean daily dose in immunoglobulin replacement therapy in primary antibody deficiencies 
Lucas M, Lee M, Oksenhendler E, Chapel H
2015
J Allergy Clin Immunol In Prac
IUIS2015 Classification: Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015 
Picard C, et al.
2015
J Clin Immunol.
A neuropathological study of cerebrovascular abnormalities in a signal transducer and activator of transcription 3-deficient patient 
Chandesris et al
2015
J Allergy Clin Immunol.
Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies. 
Suarez F, Mahlaoui N et al
2015
J Clin Oncol.
Next-Generation Sequencing for Diagnosis and Tailored Therapy: A Case Report of Astrovirus-Associated Progressive Encephalitis 
Frémond ML et al
2015
J Pediatric Infect Dis Soc.
Good syndrome: an adult-onset immunodeficiency remarkable for its high incidence of invasive infections and autoimmune complications. 
Malphettes M et al
2015
Clin Infect Dis.
Severe chronic primary neutropenia in adults: report on a series of 108 patients. 
Sicre de Fontbrune et al
2015
Blood
The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies. 
Bousfiha et al
2015
J Clin Immunol.
DICV et atteintes respiratoires 
Hadjadj et al
2015
Rev Mal Respir.
Early-onset hypogammaglobulinemia: A survey of 44 patients. 
Brignier A et al
2015
J Allergy Clin Immunol.
DEPISTRECS : dépistage néonatal des SCID 
Thomas C et al
2015
Arch Pediatr.
Systematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of cost-effectiveness based on French real field data. 
Clement MC, Mahlaoui N et al
2015
J Allergy Clin Immunol.
Pulmonary manifestations in adult patients with chronic granulomatous disease. 
Salvator et al
2015
Eur Respir J.
Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis 
Ling Y et al
2015
J Exp Med
ICF patients. Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology 
Velasco G et al.
2014
Orphanet J Rare Dis.
Primary Immune deficiencies - principles of care 
Chapel H et al.
2014
Front Immunol.
Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies. 
Picard C, Fischer A.
2014
Eur J Immunol.
Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers. 
Aguilar et al.
2014
J Allergy Clin Immunol.
Stem cell transplantation for primary immunodeficiencies: the European experience. 
Cavazzana M
2014
Curr Opin Allergy Clin Immunol.
The case for mandatory newborn screening for severe combined immunodeficiency (SCID). 
Gaspar H et al
2014
J Clin Immunol.
Live rubella virus vaccine long-term persistence as an antigenic trigger of cutaneous granulomas in patients with primary immunodeficiency. 
Bodemer et al
2014
Clin Microbiol Infect.
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. 
Al-Herz W et al
2014
Front Immunol.
Idiopathic CD4 lymphocytopenia: clinical and immunologic characteristics and follow-up of 40 patients. 
Régent et al
2014
Medicine (Baltimore)
B-cell subpopulations in children: National reference values. 
Duchamp et al
2014
Immun Inflamm Dis
Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease. 
Magnani et al
2014
J Allergy Clin Immunol.
Clinical picture and treatment of 2212 patients with common variable immunodeficiency. 
Gathmann et al
2014
J Allergy Clin Immunol.
Evaluation of the T-cell receptor excision circle assay performances for severe combined immunodeficiency neonatal screening on Guthrie cards in a French single centre study. 
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Clin Immunol.
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Neurology
Prévention des infections chez les patients atteints de DIH 
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Clinical Infectious Diseases
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Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome. 
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Efficacy and safety of thalidomide in patients with inflammatory manifestations of chronic granulomatous disease: a retrospective case series 
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J Allergy Clin Immunol.
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Deiva et al
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Neurology
Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey 
Chandesris et al
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Medicine (Baltimore)
Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome 
Donadieu et al
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Haematologica
Infections fongiques et granulomatose septique chronique. De la physiopathologie aux nouvelles perspectives thérapeutiques 
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Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemia. 
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Arch Pediatr.
Invasive mold infections in chronic granulomatous disease: a 25-year retrospective survey. 
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Clin Infect Dis.
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. 
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Epidemiology and outcome of invasive fungal diseases in patients with chronic granulomatous disease: a multicenter study in France. 
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Immunoglobulin dosage and switch from intravenous to subcutaneous immunoglobulin replacement therapy in patients with primary hypogammaglobulinemia: decreasing dosage does not alter serum IgG levels. 
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Prise en charge des déficits immunitaires primitifs humoraux avec déficit en IgG et substitution par immunoglobulines humaines normales intraveineuses : résultats d’une enquête nationale 
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La Presse Médicale
Economic evaluation of immunoglobulin replacement in patients with primary antibody deficiencies. 
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Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. 
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The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008. 
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Clin Exp Immunol.
Actinomyces in chronic granulomatous disease: an emerging and unanticipated pathogen. 
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Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins: a single-center retrospective report of 38 patients. 
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Pediatrics