A Case of Rare Splice Site Bruton's Tyrosine Kinase Mutation with Atypical X-linked Agammaglobulinemia

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by reduced mature peripheral B cells and hypogammaglobulinemia caused by mutations in the gene (Btk) encoding for the B-cell receptor (BCR) signal transduction molecule, Bruton's tyrosine kinase, BTK.1 The gene is located at Xq21.3-Xq22 on the X chromosome and various types of mutations have been documented. The largest database of mutations, originally founded for XLA, is called the BTKbase. Of these, splice-site mutations make up 16% of cases.

Source: Annals of Allergy, Asthma and Immunology - December 9, 2022 Category: Allergy & Immunology Authors: Sanghwa E Park, Brittanie I Neaves, Karla Adams Tags: Letters Source Type: research