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Severe combined immunodeficiency in man with an absence of immunoglobulin gene rearrangements but normal T cell receptor assembly.
Thompson A; Hendriks RW; Kraakman ME; Koning F; Langlois-van den Bergh
January 30, 1991
Eur J Immunol. 1990 Sep;20(9):2051-6. Unique Identifier : AIDSLINE

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.

Antigens, CD/ANALYSIS B-Lymphocytes/IMMUNOLOGY Cell Line Cell Transformation, Viral *Gene Rearrangement *Genes, Immunoglobulin Herpesvirus 4, Human/GENETICS Human Immunoglobulins/ANALYSIS Immunologic Deficiency Syndromes/GENETICS/*IMMUNOLOGY Mutation Receptors, Antigen, T-Cell/*ANALYSIS/GENETICS Support, Non-U.S. Gov't JOURNAL ARTICLE