Publication


Publications des équipes du CEREDIH
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
LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis 
Levy E et al.
2017
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
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
Next-Generation Sequencing for Diagnosis and Tailored Therapy: A Case Report of Astrovirus-Associated Progressive Encephalitis 
Fremont ML et al.
2016
J Pediatric Infect Dis Soc
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.
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
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.
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. 
Audrain et al
2014
Clin Immunol.
Ataxie-Télangiectasie : phénotype adulte 
Meneret et al.
2014
Neurology
Prévention des infections chez les patients atteints de DIH 
Aguilar et al. (Réseau CEREDIH)
2014
Clinical Infectious Diseases
Epidemiology of congenital neutropenia. 
Donadieu et al
2013
Hematol Oncol Clin North Am.
Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome. 
Mahlaoui et al
2013
Blood
Enterobacter cloacae pyomyositis complicating chronic granulomatous disease and review of gram-negative bacilli pyomyositis. 
Goussef M et al
2013
Eur J Clin Microbiol Infect Dis.
Granulomatous disease in CVID: retrospective analysis of clinical characteristics and treatment efficacy in a cohort of 59 patients. 
Bourriquet et al
2013
J Clin Immunol.
Granulomatous disease in CVID: retrospective analysis of clinical characteristics and treatment efficacy in a cohort of 59 patients. 
Bourriquet et al
2013
J Clin Immunol.
Efficiency of immunoglobulin G replacement therapy in common variable immunodeficiency: correlations with clinical phenotype and polymorphism of the neonatal Fc receptor. 
Gouilleux-Gruart V et al
2013
Clin Exp Immunol.
Efficacy and safety of thalidomide in patients with inflammatory manifestations of chronic granulomatous disease: a retrospective case series 
Noel et al
2013
J Allergy Clin Immunol.
CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis. 
Deiva et al
2012
Neurology
Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey 
Chandesris et al
2012
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
2012
Haematologica
Infections fongiques et granulomatose septique chronique. De la physiopathologie aux nouvelles perspectives thérapeutiques 
Desjardins et al
2012
Med Sci (Paris).
Confirmation and improvement of criteria for clinical phenotyping in common variable immunodeficiency disorders in replicate cohorts. 
Chapel H et al.
2012
J Allergy Clin Immunol.
Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemia. 
Micol et al
2012
J Allergy Clin Immunol.
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). 
Pachlopnik-Schmid J et al
2011
Blood
Infections fongiques et déficits immunitaires héréditaires 
Bustamante et al
2011
Arch Pediatr.
Invasive mold infections in chronic granulomatous disease: a 25-year retrospective survey. 
Blumental et al
2011
Clin Infect Dis.
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. 
Micol et al
2011
J Allergy Clin Immunol.
Epidemiology and outcome of invasive fungal diseases in patients with chronic granulomatous disease: a multicenter study in France. 
Beauté et al.
2011
Pediatr Infect Dis J.
Congenital neutropenia: diagnosis, molecular bases and patient management 
Jean Donadieu, Odile Fenneteau, Blandine Beaupain, Nizar Mahlaoui and Christine Bellanné Chantelot
2011
Orphanet Journal of Rare Diseases
Immunoglobulin dosage and switch from intravenous to subcutaneous immunoglobulin replacement therapy in patients with primary hypogammaglobulinemia: decreasing dosage does not alter serum IgG levels. 
Thépot S et al.
2010
J Clin Immunol.
The French national registry of primary immunodeficiency diseases. 
CEREDIH
2010
Clin Immunol.
Prise en charge des déficits immunitaires primitifs humoraux avec déficit en IgG et substitution par immunoglobulines humaines normales intraveineuses : résultats d’une enquête nationale 
Suarez et al
2010
La Presse Médicale
Economic evaluation of immunoglobulin replacement in patients with primary antibody deficiencies. 
Beauté et al.
2010
Clin Exp Immunol.
Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. 
Neven et al
2009
Blood
The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008. 
Gathmann et al
2009
Clin Exp Immunol.
Actinomyces in chronic granulomatous disease: an emerging and unanticipated pathogen. 
Reichenbach J et al
2009
Clin Infect Dis.
Late-onset combined immune deficiency: a subset of common variable immunodeficiency with severe T cell defect (LOCID) 
Malphettes M et al
2009
Clin Infect Dis.
Explorations immunitaires chez l’enfant suivi pour infections respiratoires récurrentes 
Mahlaoui N
2007
Arch Pediatr.
Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins: a single-center retrospective report of 38 patients. 
Mahlaoui et al
2007
Pediatrics