A novel BTK gene mutation, c.82delC (p.Arg28 Alafs(*)5), 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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Detalles Bibliográficos
Autores principales: Lee, Jeongeun, Rhee, Minhee, Min, Taek Ki, Bang, Hae In, Jang, Mi-Ae, Kang, Eun-Suk, Kim, Hee-Jin, Yang, Hyeon-Jong, Pyun, Bok Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177711/
https://www.ncbi.nlm.nih.gov/pubmed/28018445
http://dx.doi.org/10.3345/kjp.2016.59.11.S49

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177711/
https://www.ncbi.nlm.nih.gov/pubmed/28018445
http://dx.doi.org/10.3345/kjp.2016.59.11.S49

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