A compound heterozygosity mutation in the interleukin-7 receptor-alpha gene resulted in severe combined immunodeficiency in a Chinese patient

A compound heterozygosity mutation in the interleukin-7 receptor-alpha gene resulted in severe combined immunodeficiency in a Chinese patient

OBJECTIVE: Mutation in the interleukin-7 receptor-alpha (IL-7R alpha) chain causes a rare type of severe combined immunodeficiency (SCID) with presence of NK cells in the peripheral blood. Here we report the molecular and clinical characterization of a compound heterozygosity mutation in the interle...

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Bibliographische Detailangaben
Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 47(2009), 9 vom: 21. Sept., Seite 691-5
1. Verfasser: Zhang, Zhi-yong (VerfasserIn)
Weitere Verfasser: Zhao, Xiao-dong, Wang, Mo, Yu, Jie, An, Yun-fei, Yang, Xi-qiang
Format: Aufsatz
Sprache:Chinese
Veröffentlicht: 2009
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:Case Reports English Abstract Journal Article Research Support, Non-U.S. Gov't Receptors, Interleukin-7 interleukin-7 receptor, alpha chain DNA 9007-49-2