Recurrent pneumonia with mild hypogammaglobulinemia diagnosed as X-linked agammaglobulinemia in adults

Kazuhiro Usui, Yoji Sasahara, Ryushi Tazawa, Koichi Hagiwara, Satoshi Tsukada, Toshio Miyawaki, Shigeru Tsuchiya, Toshihiro Nukiwa

Research output: Contribution to journalArticlepeer-review

23 Citations (Scopus)

Abstract

Background: X-linked agammaglobulinemia (XLA) is a humoral immunodeficiency caused by disruption of the Bruton's tyrosine kinase (BTK) gene. Typical XLA patients suffer recurrent and severe bacterial infections in childhood. Methods: Flow cytometric analysis of the peripheral monocytes using the anti-BTK antibody was used to characterize a 27 year old male patient with mild hypogammaglobulinemia (IgG, 635 mg/dl; IgM, 11 mg/dl; IgA, <5 mg/dl). He had suffered from frequent pneumonia since age 25 but had no history of frequent infections in his childhood or in adolescence. Sequencing of the BTK cDNA obtained from an Epstein-Barr virus-transformed B lymphoblastoid cell line derived from the bone marrow of the patient was performed to confirm a genetic defect. Results: Flow cytometric analysis of cytoplasmic BTK protein in peripheral monocytes indicated that the patient presents a rare case of adult-onset XLA and that his mother is an XLA carrier. Sequencing of the BTK gene revealed a deletion of AG in the codon for Glu605 (AGT), resulting in an aberrant stop codon that truncates the BTK protein in its kinase domain. Conclusions: This case suggests that some XLA cases may remain undiagnosed because they only show mild hypogammaglobulinemia and they lack repeated infections in childhood. Flow cytometric analysis is a powerful method to screen these patients.

Original languageEnglish
Pages (from-to)188-192
Number of pages5
JournalRespiratory Research
Volume2
Issue number3
DOIs
Publication statusPublished - 2001

Keywords

  • Adult onset
  • Bruton's tyrosine kinase
  • Mild hypogammaglobulinemia
  • Recurrent pneumonia
  • X-linked agammaglobulinemia

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

Fingerprint

Dive into the research topics of 'Recurrent pneumonia with mild hypogammaglobulinemia diagnosed as X-linked agammaglobulinemia in adults'. Together they form a unique fingerprint.

Cite this