- 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 = D016511Bare 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 calledmajor histocompatibility complex class II (MHC class II) are not expressed.The result is that the
immune system is severely compromised and cannot effectively fightinfection . Clinically, this is similar tosevere combined immunodeficiency (SCID), in whichlymphocyte 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 ingenes 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 , orTAPBP .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
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