Journal List > Tuberc Respir Dis > v.65(3) > 1001271

Chung, Jung, Son, Ku, Park, Byun, Moon, Kim, Kim, Chang, Kim, Shin, and Park: A Case of X-Linked Agammaglobulinemia with Btk Gene Intron 2 Mutation

Abstract

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 ??C>G).

Figures and Tables

Figure 1
(A) Chest X-ray taken before admission showed pneumonic consolidation on right middle lobe. (B) Chest X-ray on admission showed diffuse bronchiectatic change with patchy consolidation and ground glass opacity in both middle lung field and both lower lung field. (C) Chest X-ray taken after treatment with antibiotics and gammaglobulin.
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Figure 2
Chest CT scans taken before admission showed severe and diffuse bronchitis, bronchiectasis, bronchiolectasia and air trapping.
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Figure 3
Mutation analysis of the Btk gene. Direct sequencing of intron 2 of the Btk gene showed a cytosine-to-guanine transversion at nucleotide position 16558 (IVS2 -3C>G).
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