Primary T-cell immunodeficiencies.
The phenotypes of many primary T-cell immunodeficiencies have been described, including diseases associated with defective T-cell differentiation and/or activation. Recently, genotypes have been defined for some of them, such as X-linked severe combined immunodeficiency and CD3 deficiencies (or hyper IgM syndrome). Phenotype/genotype correlation studies open a fruitful way to a better understanding of primary T-cell immunodeficiencies.
Fischer
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INSERM U 132, Hôpital des Enfants-Malades, Paris, France.
D000243:Adenosine Deaminase / Q000172:deficiency; D017252:CD3 Complex / Q000235:genetics; D004260:DNA Repair / Q000235:genetics; D004062:DiGeorge Syndrome / Q000235:genetics; D008040:Genetic Linkage; D000949:Histocompatibility Antigens Class II / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008213:Lymphocyte Activation / Q000235:genetics; D016511:Severe Combined Immunodeficiency / Q000235:genetics; D013601:T-Lymphocytes; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics; D014960:X Chromosome
D017252:CD3 Complex; D000949:Histocompatibility Antigens Class II; D000243:Adenosine Deaminase