Bare lymphocyte syndrome

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

Bare lymphocyte syndrome is a condition caused by deficiencies in major histocompatibility complex:

Classification

* Type 1: MHC class I
* Type 2: MHC class II

Presentation

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 similar to severe combined immunodeficiency (SCID), in which lymphocyte precursor cells are improperly formed.

Diarrhea can be among the associated conditions.cite web |url=http://www.lib.mcg.edu/edu/esimmuno/casehist/diseases/barelymp.htm |title=Immunologic Disease and Disorders |format= |work= |accessdate=]

Genetics

BLS II

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 [cite journal |author=Reith W, Mach B |title=The bare lymphocyte syndrome and the regulation of MHC expression |journal=Annu. Rev. Immunol. |volume=19 |issue= |pages=331–73 |year=2001 |pmid=11244040 |doi=10.1146/annurev.immunol.19.1.331] in Switzerland and Jeremy Boss [cite journal |author=DeSandro A, Nagarajan UM, Boss JM |title=The bare lymphocyte syndrome: molecular clues to the transcriptional regulation of major histocompatibility complex class II genes |journal=Am. J. Hum. Genet. |volume=65 |issue=2 |pages=279–86 |year=1999 |pmid=10417269 |doi=] 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)
* RFX ankyrin repeats (RFXANK; also known as RFXB)

BLS I

BLS I, which is much more rare, is associated with TAP2, TAP1, or TAPBP.OMIM|604571|title=BARE LYMPHOCYTE SYNDROME, TYPE I]

Treatment

Though BLSII is an attractive candidate for gene therapy , bone marrow transplant is currently the only treatment.

References


Wikimedia Foundation. 2010.

Игры ⚽ Поможем решить контрольную работу

Look at other dictionaries:

  • 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… …   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

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”