Bare lymphocyte syndrome
| Bare lymphocyte syndrome | |
| ICD-10 | D81.6 |
|---|---|
| OMIM | 604571 209920 |
| DiseasesDB | 29570 Template:DiseasesDB2 |
| MeSH | D016511 |
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Overview
Bare lymphocyte syndrome is a condition caused by deficiencies in major histocompatibility complex:
- Type 1: MHC class I
- Type 2: MHC class II
The bare lymphocyte syndrome, type II (BLS II) is a rare recessive genetic condition in which a group of genes called major histocompatibility complex class II (MHC class II) are not expressed. The result is that the immune system is severely compromised and cannot effectively fight infection. Clinically, this is known as a severe combined immunodeficiency (SCID).
The genetic basis for BLSII is not due to defects in the MHC II genes themselves. The genetic basis is the result of mutations in genes that code for proteins (transcription factors) that normally regulate the expression (gene transcription) of the MHC II genes. That is, one of the several proteins that are required to switch on MHC II genes in various cells types (primarily those in the immune system) is absent. The genes responsible were cloned by the laboratories of Bernard Mach[1] in Switzerland and Jeremy Boss[2] at Emory University in Atlanta, Georgia. Mutation in any one of four genes can lead to BLS II. The genes' names are: class II trans-activator (CIITA), regulatory factor of the X box 5 (RFX5), RFX-associated protein (RFXAP) and RFX ankyrin repeats (RFXANK; also known as RFXB).
Though BLSII is an attractive candidate for gene therapy , bone marrow transplant is currently the only treatment.
References
- ↑ Reith W, Mach B (2001). "The bare lymphocyte syndrome and the regulation of MHC expression". Annu. Rev. Immunol. 19: 331–73. doi:10.1146/annurev.immunol.19.1.331. PMID 11244040.
- ↑ DeSandro A, Nagarajan UM, Boss JM (1999). "The bare lymphocyte syndrome: molecular clues to the transcriptional regulation of major histocompatibility complex class II genes". Am. J. Hum. Genet. 65 (2): 279–86. PMID 10417269.