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...
| Main Authors: | , , , , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
The Korean Pediatric Society
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177711/ |