[Common variable immunodeficiency].
Common variable immunodeficiency (CVID) is the most frequent primary immunodeficiency in adults. It is characterized by severe hypogammaglobulinemia. Males and females are equally affected. The prevalence of the disease in France is probably arround 1/25,000; however CVID is rare in people from Asian ancestry and almost absent in Blacks. The deficit is familial in 20-25% of the cases. Clinical onset is usually during the third decade of life but may also concern children or seniors. Delay for diagnosis often remains of several years. Upper respiratory tract infections are the most frequent complications of CVID (> 85%) and may lead to severe bronchiectasis. Gastrointestinal and liver disease, autoimmune cytopenia, splénomegaly and lymphoproliferative disease may also complicate CVID. A specific genetic defect can be demonstrated in less than 5% of the cases. Therapy relies on IV or SC substitution using polyvalent immunoglobulins.
Oksenhendler
Eric
E
Département d'immunologie clinique, hôpital Saint-Louis, 75010 Paris. eric.oksenhendler@sls.aphp.fr
Fieschi
Claire
C
D000328:Adult; D000361:Agammaglobulinemia / Q000209:etiology; D000368:Aged; D000945:Antigens, Differentiation, T-Lymphocyte / Q000235:genetics; D002648:Child; D017074:Common Variable Immunodeficiency / Q000097:blood / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D005260:Female; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007136:Immunoglobulins / Q000627:therapeutic use; D007155:Immunologic Factors / Q000627:therapeutic use; D007156:Immunologic Memory; D060889:Inducible T-Cell Co-Stimulator Protein; D008297:Male; D012141:Respiratory Tract Infections / Q000209:etiology; D013163:Splenomegaly / Q000209:etiology; D053303:Transmembrane Activator and CAML Interactor Protein / Q000235:genetics
D000945:Antigens, Differentiation, T-Lymphocyte; C556692:ICOS protein, human; D007136:Immunoglobulins; D007155:Immunologic Factors; D060889:Inducible T-Cell Co-Stimulator Protein; D053303:Transmembrane Activator and CAML Interactor Protein