Bare lymphocyte syndrome: Altered HLA class II expression in B cell lines derived from two patients Journal Article
| Authors: | Hume, C. R.; Shookster, L. A.; Collins, N.; O'Reilly, R.; Lee, J. S. |
| Article Title: | Bare lymphocyte syndrome: Altered HLA class II expression in B cell lines derived from two patients |
| Abstract: | Types II and III bare lymphocyte syndrome (BLS) are severe or lethal congenital immunodeficiencies characterized by defective cell surface expression of HLA class II antigens. We have analyzed by Southern and Northern blotting B-lymphoblastoid cell lines derived by Epstein-Barr virus (EBV) transformation from peripheral blood lymphocytes of two unrelated BLS patients and their families. While DNA analyses of both families showed no indication of rearrangement or alteration of HLA region genes, class II mRNAs were virtually absent in the patients' cell lines (BLS-1 and BLS-2). This is consistent with previous observations of different BLS patients and their families. An exception to the absence of class II mRNAs in BLS was the detection of low quantities of HLA-DQα transcripts in the cell line BLS-1. This funding provides further evidence that factors regulating HLA-DQ expression may differ from those governing expression of the other class II genes. © 1989. |
| Keywords: | preschool child; child, preschool; case report; comparative study; heredity; cell line; b lymphocyte; b-lymphocytes; dna; cell culture; infant; messenger rna; syndrome; hla antigen class 2; cell line, transformed; nucleic acid hybridization; immune deficiency; histocompatibility antigens class ii; blotting, northern; epstein barr virus; blotting, southern; bare lymphocyte syndrome; human; male; female; priority journal; support, u.s. gov't, p.h.s.; genes, structural; dna probes, hla |
| Journal Title: | Human Immunology |
| Volume: | 25 |
| Issue: | 1 |
| ISSN: | 0198-8859 |
| Publisher: | Elsevier Inc. |
| Date Published: | 1989-05-01 |
| Start Page: | 1 |
| End Page: | 11 |
| Language: | English |
| DOI: | 10.1016/0198-8859(89)90065-7 |
| PUBMED: | 2785516 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Article -- Source: Scopus |
Altmetric
Citation Impact
BMJ Impact Analytics
Related MSK Work