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

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 DH and JH gene loci without the VH-DH 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.