title: Severe combined immunodeficiency in man with an absence of immunoglobulin gene rearrangements but normal T cell receptor assembly.
abstract: An autosomal recessive type of severe combined immunodeficiency disease (SCID) was characterized by an absence of immunoglobulins (Ig) in the serum and of Ig+ lymphocytes in bone barrow (BM) and peripheral blood. In the BM CD10+/terminal deoxynucleotidyl transferase-positive lymphocytes were identified. Epstein-Barr virus-transformed B lymphoblastoid cell lines (BLCL) obtained from BM and peripheral blood did not synthesize Ig. The Ig heavy and light chain gene complexes in the BLCL had retained the germ-line configuration. Mature T cells were present but their numbers in peripheral blood were decreased. T lymphoblastoid cells derived from peripheral blood expressed normal T cell receptor (TcR) CD3 complexes and manifested various genomic TcR rearrangements. It was concluded that this type of SCID entailed a complete arrest of B lymphocyte differentiation in an early stage prior to Ig rearrangements and a quantitative defect of T lymphocytes which nevertheless allowed development of mature T cells. Repeated failures of BM transplantation and the striking absence of Ig assembly suggested that this SCID defect resides in the BM microenvironment.
authors.affiliation: Division of Immunobiology and Genetics, University Medical Center, Leiden, The Netherlands.
authors.forename: A
authors.initials: A
authors.lastname: Thompson
authors.forename: R W
authors.initials: RW
authors.lastname: Hendriks
authors.forename: M E
authors.initials: ME
authors.lastname: Kraakman
authors.forename: F
authors.initials: F
authors.lastname: Koning
authors.forename: R
authors.initials: R
authors.lastname: Langlois-van den Bergh
authors.forename: J M
authors.initials: JM
authors.lastname: Vossen
authors.forename: C M
authors.initials: CM
authors.lastname: Weemaes
authors.forename: R K
authors.initials: RK
authors.lastname: Schuurman
mesh_terms: D015703:Antigens, CD / Q000032:analysis; D001402:B-Lymphocytes / Q000276:immunology; D002460:Cell Line; D002472:Cell Transformation, Viral; D015321:Gene Rearrangement; D005803:Genes, Immunoglobulin; D004854:Herpesvirus 4, Human / Q000235:genetics; D006801:Humans; D007136:Immunoglobulins / Q000032:analysis; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000276:immunology*; D009154:Mutation; D011948:Receptors, Antigen, T-Cell / Q000032:analysis* / Q000235:genetics
chemical_list: D015703:Antigens, CD; D007136:Immunoglobulins; D011948:Receptors, Antigen, T-Cell