A new disorder of lymphocyte apoptosis: combination of autoimmunity, infectious lymphadenopathy, double negative T cells, and impaired activation-induced cell death.
A new symptom-complex is described characterized by manifestations of autoimmune disease, infectious lymphadenopathy, double negative T cells, and impaired activation-induced cell death that developed in late adolescence. Similarities, but also significant differences, to autoimmune lymphoproliferative syndromes (ALPS, Canale-Smith syndrome) and autoimmune lymphoproliferative disease (ALD, Dianzani syndrome), were observed. The main clinical features were recurrent bacterial infections with subsequent lymphadenopathy due to autoimmune neutropenia. Laboratory results revealed a large proportion of alphabetaTCR positive, CD4 negative, CD8 negative, peripheral T cells, and a decreased apoptosis upon activation with phytohemagglutinin and interleukin 2, but normal Fas-mediated apoptosis. Genetic investigations excluded mutations in Fas gene death domain and in the 4 exons of Fas ligand gene. Despite unknown pathogenesis, this new syndrome might belong to the growing group of diseases with defects in apoptosis.
Hundt
Matthias
M
Department of Clinical Immunology, Hannover Medical School, Germany. mhundt@liai.org
Posovszky
Carsten
C
Schmidt
Reinhold E
RE
D000328:Adult; D017209:Apoptosis; D001327:Autoimmune Diseases / Q000150:complications / Q000235:genetics / Q000276:immunology* / Q000473:pathology*; D001424:Bacterial Infections / Q000209:etiology; D005260:Female; D006801:Humans; D008206:Lymphatic Diseases / Q000209:etiology / Q000276:immunology / Q000473:pathology; D008213:Lymphocyte Activation / Q000276:immunology; D008232:Lymphoproliferative Disorders / Q000150:complications / Q000235:genetics / Q000276:immunology* / Q000473:pathology*; D009154:Mutation; D009450:Neurodermatitis / Q000209:etiology; D009503:Neutropenia / Q000209:etiology; D012859:Sjogren's Syndrome / Q000209:etiology; D013601:T-Lymphocytes / Q000276:immunology / Q000473:pathology*; D019014:fas Receptor / Q000235:genetics
D019014:fas Receptor