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

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

Clin Exp Pediatr. 2016;59(Suppl 1):S49-S52. Published online November 30, 2016

Crossref 2

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...

DOI: https://doi.org/10.3345/kjp.2016.59.11.S49

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