French national reference center for primary immunodeficiencies (CEREDIH)

Primary Immunodeficiencies (PID) may affect both children and adults. These are genetic diseases of the immune system that predispose to infections linked to a wide variety of infectious agents (common or opportunistic) that can reach different organs (e.g., the ENT sphere, the digestive tract, the lungs), but also to autoimmune diseases (linked to hyperactivity of the immune system), allergies, lymphoproliferative syndromes (increase in the size of the liver, spleen and lymph nodes) and possibly cancer.

This reference center is affiliated to the MARIH rare disease healthcare network and to the RITA European Reference Network (ERN).


Pr Alain Fischer

Dr Nizar Mahlaoui

Contact us

Talk to someone or make an appointment

Phone. + 33 1 44 49 48 24

> Secretary email address

> Outpatient email address

To write to CEREDIH from France (metropolitan France and French overseas departments and territories), send your mail, postage free, to :
75742 PARIS CEDEX 15

In case of emergency

  • facilitate the diagnosis of the rare disease and define a therapeutic care strategy by setting up a specialized network of clinical physicians (pediatricians and adults) and biologists; this network is coordinated by CEREDIH and a national scientific committee ;
  • define and disseminate recommendations ;
  • coordinate research and epidemiological studies ;
  • participate in training and information activities for healthcare professionals, patients and their families ;
  • animate and coordinate networks and health and medico-social correspondents;
  • to be privileged interlocutors for the guardians and patients associations.

> For further informations

  • Humoral immune deficiencies including agammaglobulinemia, common variable immune deficiency (CVID), hyper-IgM syndrome.
  • Cellular immune deficiencies including severe combined immune deficiencies (SCID or « boy in the bubble » syndrome), combined immune deficiencies, Wiskott Aldrich Syndrome
  • Deficits of innate immunity including chronic granulomatosis, leukocyte adhesion deficiency, immune deficiencies with elective microbial susceptibility.
  • Autoimmune and Immune dysregulation deficiencies, including autoimmune lymphoproliferative syndrome, hemophagocytic lymphohistyocytosis
  • Complement deficiencies
En savoir +

Timely and accurate diagnosis is key. Diagnotic delay leads to lower prognosis. Likelihood of being cured after a Hematopoietic Stem Cell Transplant (HSCT) for SCID is above 90% if performed in the first 3 months of life whereas it is only 70% if performed after 3 months old. Early onset of the best therapies dramatically increases the survival and the quality of life. Depending on the type and severity of each PID, treatment options may vary.

Below is a non exhautive list:

  • Long term prophylactic antiobiotics and/or antifungals
  • Immunoglobulins (antibodies derived from human plasma) infused intravenously (at home or hospital) or subcutaneously (at home)
  • Enzyme replacement therapy (for a rare form of SCID
  • Hematopoietic Stem Cell Transplant (HSCT) when necessary
  • Gene therapy (for a few PID as per now)

Prof. Alain Fischer, CEREDIH Chair, Pediatric Immuno-Hematology

Dr. Nizar Mahlaoui, CEREDIH Manager , Pediatric Immuno-Hematology

Prof. Olivier Lortholary, Head of the Adult Infectious and Tropical Diseases Unit

Prof. Capucine Picard, Head of the Study Center for Primary Immunodeficiencies – Laboratory of Immunology Analyses, Pediatric Immuno-Hematology

Prof. Felipe Suarez, Adult Hematology Unit

Prof. Olivier Hermine, Adult Hematology Unit

Prof. Stéphane Blanche, Head of the Pediatric Immuno-Hematology and Rheumatology Unit

Prof. Bénédicte Neven, Pediatric Immuno-Hematology

Dr. Despina Moshous, Pediatric Immuno-Hematology

Immunoglobulin replacement therapy infused at home (intravenously or subcutaneously) for children with humoral PID and their parents therapeutic education program

National Newborn Screening for Severe Combined Immunodeficiencies on the Guthrie card: health-economics research program (led by the Nantes University Hosp.) in collaboration with the health-economics research unit-Île-de-France, Hôtel-Dieu Hospital. 200,000 newborns were included in 50 maternities.

Quality of life study of children and adults patients with PID (national cohort, led by the Timone-Marseilles University Hosp.). More than 1,000 patients were included.

National Epidemiology of PID (national registry of PID run by CEREDIH) in collaboration with the Biostatistics laboratory of Necker-Imagine.

Design of a chip for the genetic diagnosis of PID (in collaboration with the Laboratory of Human Genetics, Imagine).

Inter-university diploma in pediatric immunohematology
(Aix-Marseille + Grenoble + Saint-Etienne + Nancy + Paris + Lyon + Lille universities).

The 5 main publications

Barlogis V, Mahlaoui N, Auquier P, Fouyssac F, Pellier I, Vercasson C, Allouche M, De Azevedo CB, Moshous D, Neven B, Pasquet M, Jeziorski E, Aladjidi N, Thomas C, Gandemer V, Mazingue F, Picard C, Blanche S, Michel G, Fischer A. Burden of Poor Health Conditions and Quality of Life in 656 Children with Primary Immunodeficiency. J Pediatr. 2017 Nov 30. pii: S0022-3476(17)31378-1. doi: 10.1016/j.jpeds.2017.10.029. [Epub ahead of print] PubMed PMID: 29198545.

Mahlaoui N, Jais JP, Brosselin P, Mignot C, Beaurain B, Brito C, Costes L, Courteille V, De Vergnes N, Alcaïs A, Fischer A; CEREDIH Prevalence Study Collaborators. Prevalence of primary immunodeficiencies in France is underestimated. J Allergy Clin Immunol. 2017 Dec;140(6):1731-1733. doi: 10.1016/j.jaci.2017.06.020. Epub 2017 Jul 18. PubMed PMID: 28732644.

Fischer A, Provot J, Jais JP, Alcais A, Mahlaoui N; members of the CEREDIH French PID study group. Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies. J Allergy Clin Immunol. 2017 Nov;140(5):1388-1393.e8. doi: 10.1016/j.jaci.2016.12.978. Epub 2017 Feb 10. PubMed PMID: 28192146.

Micol R, Kayal S, Mahlaoui N, Beauté J, Brosselin P, Dudoit Y, Obenga G, Barlogis V, Aladjidi N, Kebaili K, Thomas C, Dulieu F, Monpoux F, Nové-Josserand  R, Pellier I, Lambotte O, Salmon A, Masseau A, Galanaud P, Oksenhendler E, Tabone MD, Teira P, Coignard-Biehler H, Lanternier F, Join-Lambert O, Mouillot G, Theodorou I, Lecron JC, Alyanakian MA, Picard C, Blanche S, Hermine O, Suarez F, Debré M, Lecuit M, Lortholary O, Durandy A, Fischer A. Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemia. J Allergy Clin Immunol. 2012 Mar;129(3):770-7. doi: 10.1016/j.jaci.2011.09.047. Epub 2011 Dec 6. PubMed PMID: 22153772.

CEREDIH: The French PID study group. The French national registry of primary immunodeficiency diseases. Clin Immunol. 2010 May;135(2):264-72. doi: 10.1016/j.clim.2010.02.021. PubMed PMID: 20399414.

> See all CEREDIH publications

Contact information

Necker-Enfants malades university hospital
> Pediatric immuno-hematology and rheumatology department

149 rue de Sèvres
75743 PARIS Cedex 15

In Necker, the CEREDIH in brief 

patients followed at least once a year*
medical consultations*
day hospitalizations*
fully hospitalized patients*
authorized therapeutic education program*
patients trained in therapeutic education*
current research projects*
university courses*

* data valid for 2019