A Case of X-Linked Agammaglobulinemia with Btk Gene Intron 2 Mutation

X-linked agammaglobulinemia is the most common type of primary immunodeficiency disorder. Mutation ofthe cytoplasmic tyrosine kinase gene, Btk (Bruton’s tyrosine kinase), is known to be the etiology of X-linked agammaglobulinemia. The patients with this disease manifest a B-cell deficiency and low levels of serum immunoglobulin;due to the deficient antibodies, they suffers from recurrent upper and lower respiratory infections. We report here a 24-year-old male with an initial clinical impression of recurrent pneumonia and bronchiectasis. The patient presented with marked pan-hypogammaglobulinemia and the absence of circulating B lymphocytes on the immunologic study, and he carried a splicing mutation of intron 2 in the Btk gene (IVS2 −3C＞G).

keywords: Agammaglobulinemia, Bruton’s tyrosine kinase, Mutation

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Article Contents

Vol.65 No.3

A Case of X-Linked Agammaglobulinemia with Btk Gene Intron 2 Mutation

Abstract

Reference

Tuberculosis & Respiratory Diseases