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Deficient Expression of Bruton's Tyrosine Kinase in Monocytes From
X-Linked Agammaglobulinemia as Evaluated by a Flow Cytometric Analysis
and Its Clinical Application to Carrier Detection
Takeshi Futatani,
Toshio Miyawaki,
Satoshi Tsukada,
Shoji Hashimoto,
Toshio Kunikata,
Shigeyuki Arai,
Masashi Kurimoto,
Yo Niida,
Hiroshi Matsuoka,
Yukio Sakiyama,
Tsutomu Iwata,
Shigeru Tsuchiya,
Osamu Tatsuzawa,
Kazuyuki Yoshizaki, and
Tadamitsu Kishimoto
From the Department of Pediatrics, Faculty of Medicine, Toyama
Medical and Pharmaceutical University, Toyama, Japan; the Department of
Medicine III, Osaka University Medical School, Osaka, Japan; the
Fujisaki Institute, Hayashibara Biochemical Laboratory Inc, Okayama,
Japan; the Department of Pediatrics, School of Medicine, Kanazawa
University, Kanazawa, Japan; the Department of Pediatrics, School of
Medicine, Nagoya University, Nagoya, Japan; the Department of
Pediatrics, School of Medicine, Hokkaido University, Sapporo, Japan;
the Department of Pediatrics, Faculty of Medicine, University of Tokyo,
Tokyo, Japan; the Department of Pediatric Oncology, Institute of Aging,
Development, and Cancer, Tohoku University, Sendai, Japan; the Division
of Infectious Disease, National Children's Hospital, Tokyo, Japan; and
the Department of Medical Science I, School of Health and Sport
Sciences, Osaka University, Osaka, Japan.
The B-cell defect in X-linked agammaglobulinemia (XLA) is caused by
mutations in the gene for Bruton's tyrosine kinase (BTK). Using the
anti-BTK monoclonal antibody (48-2H), a flow cytometric analysis of
intracytoplasmic BTK protein expressed in monocytes was successfully
performed. To examine the possible identification of XLA patients and
female carriers by this assay, we studied 41 unrelated XLA families
with (35) or without (6) known BTK mutations. A flow cytometric
assay showed deficient expression of the BTK protein in 40 of 41 patients, complete BTK deficiency in 35, and partial BTK deficiency in
5. One patient exhibited a normal level of BTK expression. All 6 patients with partial BTK deficiency or normal BTK expression had
missense BTK mutations. The cellular mosaicism of BTK
expression in monocytes from obligate carriers was clearly shown in 35 of 41 families. The results suggested that most BTK mutations in XLA
might result in deficient expression of the BTK protein. We conclude
that deficient expression of BTK protein can be evaluated by a flow
cytometric assay, and the clinical usefulness and limitations in
diagnosis of XLA patients and carriers are discussed.
Blood, Vol. 91 No. 2 (January 15), 1998:
pp. 595-602
© 1998 by The American Society of Hematology.
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