Bare lymphocyte syndrome 2
- Bare lymphocyte syndrome 2
= Bare Lymphocyte Syndrome, type 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 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.
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=11244040&query_hl=2&itool=pubmed_docsum] Review article by Bernard Mach et al.
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=10417269&query_hl=4&itool=pubmed_DocSum] Review article by Jeremy Boss et al.
Wikimedia Foundation.
2010.
Look at other dictionaries:
Bare lymphocyte syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 29570 DiseasesDB mult = DiseasesDB2|31627 | ICD10 = ICD10|D|81|6|d|80 ICD9 = ICDO = OMIM = 604571 OMIM mult = OMIM2|209920 | MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D016511… … Wikipedia
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
DiGeorge syndrome — 22q11.2 deletion syndrome Classification and external resources Brain computer tomography cuts of t … Wikipedia
Omenn syndrome — Classification and external resources ICD 10 D81.2 (ILDS D81.210) OMIM 603554 Diseases … Wikipedia
Nezelof syndrome — Classification and external resources ICD 10 D81.4 ICD 9 279.13 … Wikipedia
Down syndrome — Classification and external resources Boy with Down syndrome assembling a … Wikipedia
BLS — bare lymphocyte syndrome; basic life support; B cell lymphoproliferative syndrome; blind loop syndrome; blood and lymphatic system; blood sugar; Bloom syndrome; Bureau of Labor Statistics * * * BLS abbr basic life support … Medical dictionary
BLS — • bare lymphocyte syndrome; • basic life support; • B cell lymphoproliferative syndrome; • blind loop syndrome; • blood and lymphatic system; • blood sugar; • Bloom syndrome; • Bureau of Labor Statistics … Dictionary of medical acronyms & abbreviations
RFX5 — Regulatory factor X, 5 (influences HLA class II expression), also known as RFX5, is a human gene.cite web | title = Entrez Gene: RFX5 regulatory factor X, 5 (influences HLA class II expression)| url =… … Wikipedia
RFXAP — Regulatory factor X associated protein, also known as RFXAP, is a human gene.cite web | title = Entrez Gene: RFXAP regulatory factor X associated protein| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView… … Wikipedia