A novel gene mutation, c.82delC (p.Arg28 Alafs5), in a Korean family with X-linked agammaglobulinemia

A novel gene mutation, c.82delC (p.Arg28 Alafs5), in a Korean family with X-linked agammaglobulinemia

X-linked agammaglobulinemia (XLA) is a hereditary humoral immunodeficiency that results from Bruton’s tyrosine kinase (BTK) gene mutations. These mutations cause defects in B-cell development, resulting in the virtual absence of these lymphocytes from the peripheral circulation. Consequently, this a...

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Bibliographic Details
Main Authors: Jeongeun Lee, Minhee Rhee, Taek Ki Min, Hae In Bang, Mi-Ae Jang, Eun-Suk Kang, Hee-Jin Kim, Hyeon-Jong Yang, Bok Yang Pyun
Format: Article
Language:English
Published: Korean Pediatric Society 2016-11-01
Series:Korean Journal of Pediatrics
Subjects:
X-linked agammaglobulinemia
Immunodeficiency
Agammaglobulinaemia tyrosine kinase
Mutation
Online Access:http://kjp.or.kr/upload/pdf/kjped-59-S49.pdf

Internet

http://kjp.or.kr/upload/pdf/kjped-59-S49.pdf

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