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

• Main Authors: Jeongeun Lee (Author), Minhee Rhee (Author), Taek Ki Min (Author), Hae In Bang (Author), Mi-Ae Jang (Author), Eun-Suk Kang (Author), Hee-Jin Kim (Author), Hyeon-Jong Yang (Author), Bok Yang Pyun (Author)
• Format: Book
• Published: Korean Pediatric Society, 2016-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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, t...