Female agammaglobulinemia due to the Bruton tyrosine kinase deficiency caused by extremely skewed X-chromosome inactivation

Hidetoshi Takada, Hirokazu Kanegane, Akihiko Nomura, Ken Yamamoto, Kenji Ihara, Yasuhiko Takahashi, Satoshi Tsukada, Toshio Miyawaki, Toshiro Hara

Research output: Contribution to journalArticlepeer-review

29 Citations (Scopus)

Abstract

We analyzed the cause of agammaglobulinemia in a girl whose father had been diagnosed as having X-linked agammaglobulinemia (XLA). Flow cytometric analysis revealed the lack of peripheral B cells with the block of B-cell differentiation in the stages between pro-B cells and pre-B cells in the bone marrow, and the defect of the Bruton tyrosine kinase (BTK) expression on monocytes. We found a BTK gene mutation in the first single base pair of intron 11 in her father and heterozygous mutation in the patient at the site. Sequence analysis of abnormally smaller-sized polymerase chain reaction (PCR) products of cDNA confirmed splicing abnormalities due to the mutation. Maternally derived X chromosome was exclusively inactivated in peripheral blood and oral mucosal cells. This is the first report of female XLA caused by heterozygous BTK gene abnormality and extreme nonrandom inactivation of X chromosome on which normal BTK gene is located.

Original languageEnglish
Pages (from-to)185-187
Number of pages3
JournalBlood
Volume103
Issue number1
DOIs
Publication statusPublished - Jan 1 2004

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

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