Mutation analysis should be performed to rule out gammac deficiency in children with functional severe combined immune deficiency despite apparently normal immunologic tests |
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| Authors: | Somech Raz Roifman Chaim M |
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| Affiliation: | Division of Immunology/Allergy and the Infection, Immunity, Injury and Repair Program, The Research Institute and The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. |
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| Abstract: | To study the correlation between genotype and phenotype in x-linked SCID, we have characterized the presentation of 2 unrelated patients. Both had infections suggestive of immunodeficiency, but their immune function and lymphoid tissues were normal. They were found to have an identical R222C mutation in the gammac gene. |
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| Keywords: | BMT, Bone marrow transplantation cDNA, complementary DNA IL, Interleukin IL2Rγ, Interleukin-2 receptor γ MUD, Matched unrelated donor NK, Natural killer PCR, Polymerase chain reaction SCID, Severe combined immune deficiency γc, γ chain TCR-Vβ, T-cell receptor V beta region of immunoglobulin |
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