Article
Identification of 22 novel BTK gene variants in B cell deficiency with hypogammaglobulinemia.
Clinical immunology (Orlando, Fla.) - 1 Aug 2021
Kraft Monica T, Pyle Regan, Dong Xiangyang, Hagan John B, Varga Elizabeth, van Hee Michelle, Boyce Thomas G, Pozos Tamara C, Yilmaz-Demirdag Yesim, Bahna Sami L, Abraham Roshini S
Abstract excerpt
X-linked agammaglobulinemia (XLA) is an inborn error of immunity caused by pathogenic variants in the BTK gene, resulting in impaired B cell differentiation and maturation. Over 900 variants have already been described in this gene, however, new pathogenic variants continue to be identified. In this report, we describe 22 novel variants in BTK, associated with B cell deficiency with hypo- or agammaglobulinemia in...
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