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X-linked immunodeficiencies.

作者信息

Conley M E

机构信息

Department of Pediatrics, University of Tennessee College of Medicine, St Jude Children's Research Hospital, Memphis 38105.

出版信息

Curr Opin Genet Dev. 1994 Jun;4(3):401-6. doi: 10.1016/0959-437x(94)90028-0.

DOI:10.1016/0959-437x(94)90028-0
PMID:7919918
Abstract

In the past year, researchers have identified the genes responsible for X-linked severe combined immunodeficiency (encoding a cytokine receptor protein), X-linked agammaglobulinemia (encoding a cytoplasmic tyrosine kinase) and X-linked hyper IgM syndrome (encoding the ligand for CD40). Although these three genes are completely unrelated, it is of interest that all are lineage-specific genes that are involved in the control of lymphocyte proliferation or differentiation.

摘要

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引用本文的文献

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A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).一种新型的X连锁免疫缺陷和少汗型外胚层发育不良疾病与色素失禁症等位,且由IKK-γ(NEMO)基因突变引起。
Am J Hum Genet. 2000 Dec;67(6):1555-62. doi: 10.1086/316914. Epub 2000 Oct 24.
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