title: Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies.
abstract: BACKGROUND
  Primary immunodeficiencies (PIDs) are inherited diseases associated with a considerable increase in susceptibility to infections. It is known that PIDs can also predispose to cancer and immune diseases, including allergy, autoimmunity, and inflammation.
  
  
  OBJECTIVE
  We aimed at determining the incidence of autoimmunity and inflammation in patients with PIDs.
  
  
  METHODS
  We have retrospectively screened 2183 consecutive cases of PID in the Centre de Référence Déficits Immunitaires Héréditaires registry (CEREDIH; the French national PID registry) for the occurrence of autoimmunity and inflammation.
  
  
  RESULTS
  One or more autoimmune and inflammatory complications were noted in 26.2% of patients, with a risk of onset throughout the patient's lifetime. The risk of autoimmune cytopenia was at least 120 times higher than in the general population, the risk of inflammatory bowel disease in children was 80 times higher, and the risk of other autoimmune manifestations was approximately 10 times higher. Remarkably, all types of PIDs were associated with a risk of autoimmune and inflammatory complications, although the greatest risk was associated with T-cell PIDs and common variable immunodeficiency. The occurrence of autoimmune disease is a negative prognostic factor for survival.
  
  
  CONCLUSIONS
  Our results provide the basis for a detailed prospective evaluation of autoimmunity and inflammation in the context of PIDs, with a view to accurately assessing these risks and describing the possible effect of medical intervention.
authors.affiliation: Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Unité d'Immuno-Hématologie et Rhumatologie pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; INSERM UMR 1163, Paris, France; Collège de France, Paris, France. Electronic address: alain.fischer@inserm.fr.
authors.forename: Alain
authors.initials: A
authors.lastname: Fischer
authors.affiliation: Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
authors.forename: Johan
authors.initials: J
authors.lastname: Provot
authors.affiliation: Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Université Paris Descartes, INSERM UMRS 1138 Team 22, Paris, France AP-HP, Hôpital Necker Enfants Malades, Biostatistics Unit, Paris, France.
authors.forename: Jean-Philippe
authors.initials: JP
authors.lastname: Jais
authors.affiliation: Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR 1163, Paris, France.
authors.forename: Alexandre
authors.initials: A
authors.lastname: Alcais
authors.affiliation: Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Unité d'Immuno-Hématologie et Rhumatologie pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR 1163, Paris, France.
authors.forename: Nizar
authors.initials: N
authors.lastname: Mahlaoui
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D015551:Autoimmunity; D002648:Child; D002675:Child, Preschool; D005260:Female; D005602:France / Q000453:epidemiology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000453:epidemiology* / Q000401:mortality; D007223:Infant; D015212:Inflammatory Bowel Diseases / Q000453:epidemiology* / Q000401:mortality; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D011379:Prognosis; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000453:epidemiology* / Q000401:mortality; D012189:Retrospective Studies; D012306:Risk; D016019:Survival Analysis; D013601:T-Lymphocytes / Q000276:immunology*; D055815:Young Adult
keywords: Primary immunodeficiencies; autoimmunity; inflammation