Abstract
Advances in molecular biology revealed that most immunohematologic diseases are caused by single gene defects, and the genetic analyses for these diseases have been performed. However, genetic analysis is time-consuming and labor-intensive, and a rapid detection was desirable. We have established the flow cytometric detection of X-linked agammaglobulinemia, Wiskott-Aldrich syndrome/X-linked thrombocytopenia, and X-linked lymphoproliferative syndrome by using specific monoclonal antibodies. In the present study, I described a rapid clinical detection with flow cytometry and genetic analysis of these diseases. The flow cytometric analysis provided a sensitive and specific method for detection of the patients and their carriers ; however, further genetic analysis would be required for the precise diagnosis and the genetic counseling. A rapid clinical diagnosis with flow cytometry would be applicable for the detection of genetic immunohematologic diseases, including atypical cases, and the assay could be available in other genetic diseases.
