Abstract
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.
MeSH terms
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Adenosine Deaminase / deficiency
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CD3 Complex / genetics
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DNA Repair / genetics
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DiGeorge Syndrome / genetics
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Genetic Linkage
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Histocompatibility Antigens Class II / genetics
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Humans
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Immunologic Deficiency Syndromes / genetics*
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Lymphocyte Activation / genetics
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Severe Combined Immunodeficiency / genetics
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T-Lymphocytes
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Wiskott-Aldrich Syndrome / genetics
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X Chromosome
Substances
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CD3 Complex
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Histocompatibility Antigens Class II
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Adenosine Deaminase