Tuberc Respir Dis.  2008 Sep;65(3):207-211.

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

• Chung MJ
• Jung JY
• Son JY
• Ku CR
• Park BH
• Byun MK
• Moon JA
• Kim YS
• Kim SK
• Chang J
• Kim SK
• Shin DM
• Park MS

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 -3C>G).

Keyword

Agammaglobulinemia; Bruton's tyrosine kinase; Mutation

MeSH Terms

Agammaglobulinemia
Antibodies
B-Lymphocytes
Bronchiectasis
Cytoplasm
Genetic Diseases, X-Linked
Humans
Introns
Male
Pneumonia
Protein-Tyrosine Kinases
Respiratory Tract Infections
Tyrosine
Young Adult
Agammaglobulinemia
Antibodies
Genetic Diseases, X-Linked
Protein-Tyrosine Kinases
Tyrosine

Figure

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  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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