Primary Immunodeficiencies (PID) may affect both children and adults. These are inherited rare diseases of the immune system leading to an increased susceptibility to severe and/or recurrent infections (caused by a wide array of infectious agents, both regular and opportunistic) of many organs (upper and lower airways, digestive tract, skin…). They can also lead to autoimmunity, allergy, benign lymphoproliferation (enlargement of the liver, spleen, lymph nodes…) and potentailly malignancy (cancer).
In case of emergency
Call + 33 1 44 49 40 00 (Necker’s reception)
and ask either the pediactric doctor on shift or call
or the adult hematology doctor on shift or call
(depending on where the patient is followed)
- Enhance PID diagnosis and set a management strategy through a national network of clinicians (both pediatricians and adult physicians) and of biologists. This network is coordintaed by the CEREDIH team and a national steering commitee.
- Set and share guidelines
- Coordinate research and epidemiological studies
- Contribute to education, awareness, and information for healthcare professionals, patients and family members
- Coordinate a national network of social workers dedicated to the management of patients with PID
- Be a partner to health agencies and policy decision makers along with the patients associations
- Predominantly antibody deficiencies, including agammaglobulinemia, common variable immune deficiency (CVID), Hyper-IgM syndrome
- Combined immune deficiencies, including severe combined immune deficicies (SCID or « bubble-boy disease », Wiskott-Aldrich syndrome
- Innate immune deficiencies, including chronic granulomatous diseases, leukocyte adhesion deficiency, immune deficiency leading to elective infectious susceptibility
- Autoimmune and Immune dysregulation deficiencies, including autoimmune lymphoproliferative syndrome, hemophagocytic lymphohistyocytosis
- Complement deficiencies
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).
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.
Necker-Enfants malades university Hospital
Pediatric Immuno-Hematology and Rheumatology Unit
149 rue de Sèvres
75743 PARIS Cedex 15
CEREDIH Necker site in brief …
* data valid for 2018