Combined immunodeficiency disease associated with absence of cell-surface HLA-A and -B antigens

The thymus in “bare lymphocyte” syndrome: Significance of expression of major histocompatibility complex antigens on thymic epithelial cells in intrathymic T-cell maturation

“…For patients with "bare lymphocyte" syndrome Touraine et al [14,15] have observed severe thymic hypoplasia at necropsy. In contrast, we found the architecture of thymic biopsy material obtained during life from two patients with "bare lymphocyte" syndrome to be normal.…”

“…Patients with combined immunodeficiency disease associated with defective expression of HLA of class I and in some cases also of class I1 on blood mononuclear cells (so-called "bare lymphocyte" syndrome) have been described [11][12][13][14][15][16][17]. Concordant with studies in mice [3,4], the association between defective HLA antigen expression and combined immunodeficiency suggests immunological significance of HLA antigens in the development of a functional T-cell system [ 15].…”

Abnormalities of T cell maturation and regulation in human beings with immunodeficiency disorders.

“…In these individuals, <5% of their mononuclear population rosetted with sheep erythrocyte (data not shown). In addition, it is of note that one group of SCID patients has been thought to have a "bare lymphocyte syndrome" in which HLA antigens are lacking from circulating lymphocytes (20). Since HLA related antigens have been shown to be acquired during intrathymic ontogeny, it is likely that this syndrome is associated with the SCID patients who have circulating stage I thymocytes (21).…”

A defect in the regulation of major histocompatibility complex class II gene expression in human HLA-DR negative lymphocytes from patients with combined immunodeficiency syndrome.

“…HLA-negative B lymphocytes have been described in a group of patients with an autosomal recessive immunodeficiency. Defective expression of HLA antigens was first reported in patients lacking the class I antigens (3,4), while in other 1. Abbreviations used in this paper: B2 m, anti-B2 microglobulin; EBV, Epstein-Barr virus; IF, immunofluorescence; INF--y, recombinant interferon gamma; MAb, monoclonal antibody; MHC, major histocompatibility complex; mRNA, messenger RNA; NP-40, Nonidet P40; PAGE, polyacrylamide gel electrophoresis; PBL, peripheral blood leukocytes; PHA, phytohemagglutinin; PWM, pokeweed mitogen.…”