Biomaterial Database

Autoimmune manifestations in primary immune deficiencies. 2009

Guillaume Bussone, and Luc Mouthon

Université Paris Descartes, UPRES EA 4058, Paris, France.

Autoimmune manifestations have long been perceived as paradoxical in patients with primary immune deficiencies (PID). However, a defect in the mechanisms of control of self-reactive B and T cells may favour these manifestations. Three PID are defined by the occurrence of autoimmune manifestations: APECED (Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy), autoimmune lymphoproliferative syndrome (ALPS) and IPEX syndrome (immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome). In these conditions, organ specific autoimmune diseases such as type 1 diabetes mellitus or Hashimoto's thyroiditis are prominently encountered. Several other PID such as common variable immunodeficiency (CVID), Good syndrome and hyper-IgM syndrome are associated with a wide variety of autoimmune manifestations, mainly autoimmune cytopenias. Thus, autoimmune manifestations have been reported in 22% of patients with CVID, increasing to 50% in the subgroup of patients with systemic granulomatosis. Complement deficiencies involving components of the classical pathway are associated with systemic lupus erythematosus (SLE). Homozygous C2 deficiency, which is the most frequent hereditary deficiency in complement classical pathway components, is associated with SLE in 10% of the cases. Complete C1q and C4 deficiencies are less frequent but associated with a higher prevalence of SLE.

UI	MeSH Term	Description	Entries
D007153	Immunologic Deficiency Syndromes	Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.	Antibody Deficiency Syndrome,Deficiency Syndrome, Immunologic,Deficiency Syndromes, Antibody,Deficiency Syndromes, Immunologic,Immunologic Deficiency Syndrome,Immunological Deficiency Syndromes,Antibody Deficiency Syndromes,Deficiency Syndrome, Antibody,Deficiency Syndrome, Immunological,Deficiency Syndromes, Immunological,Immunological Deficiency Syndrome,Syndrome, Antibody Deficiency,Syndrome, Immunologic Deficiency,Syndrome, Immunological Deficiency,Syndromes, Antibody Deficiency,Syndromes, Immunologic Deficiency,Syndromes, Immunological Deficiency
D003165	Complement System Proteins	Serum glycoproteins participating in the host defense mechanism of COMPLEMENT ACTIVATION that creates the COMPLEMENT MEMBRANE ATTACK COMPLEX. Included are glycoproteins in the various pathways of complement activation (CLASSICAL COMPLEMENT PATHWAY; ALTERNATIVE COMPLEMENT PATHWAY; and LECTIN COMPLEMENT PATHWAY).	Complement Proteins,Complement,Complement Protein,Hemolytic Complement,Complement, Hemolytic,Protein, Complement,Proteins, Complement,Proteins, Complement System
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001327	Autoimmune Diseases	Disorders that are characterized by the production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides.	Autoimmune Disease,Disease, Autoimmune,Diseases, Autoimmune
D015551	Autoimmunity	Process whereby the immune system reacts against the body's own tissues. Autoimmunity may produce or be caused by AUTOIMMUNE DISEASES.	Autoimmune Response,Autoimmune Responses,Autoimmunities
D017074	Common Variable Immunodeficiency	Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections.	Immunodeficiency, Common Variable,Common Variable Hypogammaglobulinemia,Common Variable Immune Deficiency,Hypogammaglobulinemia, Acquired,Immunoglobulin Deficiency, Late-Onset,Acquired Hypogammaglobulinemia,Acquired Hypogammaglobulinemias,Common Variable Hypogammaglobulinemias,Common Variable Immunodeficiencies,Deficiencies, Late-Onset Immunoglobulin,Deficiency, Late-Onset Immunoglobulin,Hypogammaglobulinemia, Common Variable,Hypogammaglobulinemias, Acquired,Hypogammaglobulinemias, Common Variable,Immunodeficiencies, Common Variable,Immunoglobulin Deficiencies, Late-Onset,Immunoglobulin Deficiency, Late Onset,Late-Onset Immunoglobulin Deficiencies,Late-Onset Immunoglobulin Deficiency,Variable Hypogammaglobulinemia, Common,Variable Hypogammaglobulinemias, Common