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Prepublished online as a Blood First Edition Paper on September 4, 2003; DOI 10.1182/blood-2003-06-1964. This Article Full Text (PDF) All Versions of this Article: 2003-06-1964v1 103/1/185    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Takada, H. Articles by Hara, T. Search for Related Content PubMed PubMed Citation Articles by Takada, H. Articles by Hara, T. Social Bookmarking                   What's this? Submitted June 18, 2003 Accepted August 20, 2003 Female agammaglobulinemia due to Bruton's 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, and Toshiro Hara Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Toyama, Japan Division of Molecular Population Genetics, Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan Department of Pediatrics, Kyushu Kouseinenkin Hospital, Fukuoka, Japan Department of Molecular Medicine, Osaka University Medical School, Osaka, Japan * Corresponding author; email: takadah{at}pediatr.med.kyushu-u.ac.jp. 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 Bruton's 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 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. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: C. Spatuzza, M. Schiavone, E. Di Salle, E. Janda, M. Sardiello, G. Fiume, O. Fierro, M. Simonetta, N. Argiriou, R. Faraonio, et al. Physical and functional characterization of the genetic locus of IBtk, an inhibitor of Bruton's tyrosine kinase: evidence for three protein isoforms of IBtk Nucleic Acids Res., August 1, 2008; 36(13): 4402 - 4416. [Abstract] [Full Text] [PDF]

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