Abnormalities in DNA rearrangements of immunoglobulin gene loci in precursor B cells derived from X-linked agammaglobulinemia patient and a severe combined immunodeficiency patient

✍ Scribed by Yoshikazu Ichihara; Hiroshi Matsuoka; Ikuya Tsuge; Jun-ichi Okada; Shinpei Torii; Hisashi Yasui; Yoshikazu Kurosawa

• Publisher: Springer-Verlag
• Year: 1988
• Tongue: English
• Weight: 781 KB
• Volume: 27
• Category: Article
• ISSN: 0093-7711
• DOI: 10.1007/bf00395128

✦ Synopsis

In an attempt to characterize the genes that cause immunodeficiencies such as X-linked agammaglobulinemia (XLA) and severe combined immunodeficiency (SCID) we established precursor B-cell lines by transforming the patients' bone marrow cells with Epstein-Barr viruses. DNA rearrangements of immunoglobulin JH gene loci were observed on both chromosomes in pre-B cells derived from an XLA patient. We cloned and characterized both rearranged bands from one cell line. Both of the rearrangements occurred between D# and J~ gene loci without the VH-D n structure. On the other hand, JH gene loci retained the germline configuration on both chromosomes in almost all the transformants derived from a SCID patient that had been determined according to their surface markers, to be in an early precursor B-cell stage. The implications of the observations are discussed.