A novel BTK gene mutation, c.82delC (p.Arg28 Alafs^*5), in a Korean family with X-linked agammaglobulinemia.

ABSTRACT: 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 absence leads to a profound deficiency of lg all isotypes, and an increased susceptibility to encapsulated bacterial infections. A 15-month-old Korean boy presented with recurrent sinusitis and otitis media after 6 months of age, and had a family history of 2 maternal uncles with XLA. Laboratory tests revealed a profound deficiency of Ig isotypes, and a decreased count of CD19⁺ B cells in the peripheral circulation. Based on his family history and our laboratory test results, he

SUBMITTER: Lee J 

PROVIDER: S-EPMC5177711 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature