The multiple causes of human SCID.
SCID, a syndrome characterized by the absence of T cells and adaptive immunity, can result from mutations in multiple genes that encode components of the immune system. Three such components are cytokine receptor chains or signaling molecules, five are needed for antigen receptor development, one is adenosine deaminase--a purine salvage pathway enzyme, and the last is a phosphatase, CD45. In this issue of the JCI, a report describes how complete deficiency of the CD3epsilon chain of the T cell antigen receptor/CD3 complex causes human SCID.
Buckley
Rebecca H
RH
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA. buckL003@mc.duke.edu
D000243:Adenosine Deaminase / Q000172:deficiency* / Q000235:genetics; D017252:CD3 Complex / Q000737:chemistry* / Q000235:genetics; D002880:Chromosomes, Human, Pair 11; D041321:Chromosomes, Human, X; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D017493:Leukocyte Common Antigens / Q000235:genetics; D008954:Models, Biological; D009154:Mutation; D010375:Pedigree; D021122:Protein Subunits / Q000737:chemistry* / Q000235:genetics; D017260:Receptor-CD3 Complex, Antigen, T-Cell / Q000172:deficiency* / Q000235:genetics; D011948:Receptors, Antigen, T-Cell / Q000172:deficiency* / Q000235:genetics; D018121:Receptors, Cytokine / Q000378:metabolism; D016511:Severe Combined Immunodeficiency / Q000209:etiology* / Q000235:genetics
D017252:CD3 Complex; D005819:Genetic Markers; D021122:Protein Subunits; D017260:Receptor-CD3 Complex, Antigen, T-Cell; D011948:Receptors, Antigen, T-Cell; D018121:Receptors, Cytokine; D017493:Leukocyte Common Antigens; D000243:Adenosine Deaminase