title: [Primary immunodeficiency and autoimmunity].
abstract: Many evidences highlight that immunodeficiency and autoimmunity are two sides of a same coin. Primary immune deficiencies (PIDs), which are rare mono- or multigenic defects of innate or adaptative immunity, frequently associate with autoimmunity. Analyses of single-gene defects in immune pathways of families with PIDs, by new tools of molecular biology (next genome sequencing technologies), allowed a better understanding of the ways that could both drive immune defect with immune deficiency and autoimmunity. Moreover, genes implicated in rare single-gene defects are now known to be also involved in polygenic conventional autoimmune diseases. Here, we describe the main autoimmune symptoms occurring in PIDs and the underlying mechanisms that lead to autoimmunity in immunodeficiency. We review the links between autoimmunity and immunodeficiency and purpose some principles of care for patients with PIDs and autoimmunity.
authors.affiliation: CNRS UPR 3572 « immunopathologie et chimie thérapeutique », laboratoire d'excellence Medalis, institut de biologie moléculaire et cellulaire (IBMC), 67000 Strasbourg, France; Service d'immunologie clinique et de médecine interne, Centre national de référence des maladies auto-immunes rares, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67091 Strasbourg, France. Electronic address: aurelien.guffroy@chru-strasbourg.fr.
authors.forename: A
authors.initials: A
authors.lastname: Guffroy
authors.affiliation: CNRS UPR 3572 « immunopathologie et chimie thérapeutique », laboratoire d'excellence Medalis, institut de biologie moléculaire et cellulaire (IBMC), 67000 Strasbourg, France; Service d'immunologie clinique et de médecine interne, Centre national de référence des maladies auto-immunes rares, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67091 Strasbourg, France.
authors.forename: V
authors.initials: V
authors.lastname: Gies
authors.affiliation: CNRS UPR 3572 « immunopathologie et chimie thérapeutique », laboratoire d'excellence Medalis, institut de biologie moléculaire et cellulaire (IBMC), 67000 Strasbourg, France; Service d'immunologie clinique et de médecine interne, Centre national de référence des maladies auto-immunes rares, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67091 Strasbourg, France.
authors.forename: M
authors.initials: M
authors.lastname: Martin
authors.affiliation: CNRS UPR 3572 « immunopathologie et chimie thérapeutique », laboratoire d'excellence Medalis, institut de biologie moléculaire et cellulaire (IBMC), 67000 Strasbourg, France; Service d'immunologie clinique et de médecine interne, Centre national de référence des maladies auto-immunes rares, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67091 Strasbourg, France.
authors.forename: A-S
authors.initials: AS
authors.lastname: Korganow
mesh_terms: D056704:Adaptive Immunity / Q000235:genetics; D000328:Adult; D001327:Autoimmune Diseases / Q000150:complications* / Q000453:epidemiology / Q000628:therapy; D015551:Autoimmunity / Q000235:genetics / Q000502:physiology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000453:epidemiology / Q000209:etiology* / Q000276:immunology / Q000628:therapy
keywords: Auto-immunité; Autoimmunity; Common variable immunodeficiency (CVID); Déficit immunitaire commun variable (DICV); Déficit immunitaire primitif (DIP); Primary immunodeficiency