Bare lymphocyte syndrome
Bare lymphocyte syndrome | |
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Bare lymphocyte syndrome is autosomal recessive in inheritance | |
Specialty | Hematology |
Bare lymphocyte syndrome is a condition caused by mutations in certain genes of the major histocompatibility complex or involved with the processing and presentation of MHC molecules. It is a form of severe combined immunodeficiency.[1]
Presentation
The bare lymphocyte syndrome, type II (BLS II) is a rare
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. Absolute T-cell count is also reduced, due to impaired development with the absence of MHC II.[2]
TAP (transporter associated with antigen presentation) deficiency syndrome is the best characterized of BLS I.[3] Symptoms can include recurrent bacterial infections of the respiratory tract and chronic skin lesions. Bronchiectasis and respiratory failure and complete destruction of the nose and cerebral abscess are severe complications.[3]
Diarrhea can be among the associated conditions.[4]
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
Mutation in any one of four genes can lead to BLS II. The genes' names are:
- class II trans-activator (CIITA)
- regulatory factor X5 (RFX5)
- RFX-associated protein (RFXAP)
- RFX ankyrin repeats (RFXANK; also known as RFXB)
BLS I
BLS I, also called "HLA class I deficiency", which is much more rare, is associated with
Diagnosis
Classification
- Type 1: MHC class I
- Type 2: MHC class II
Treatment
Though BLSII is an attractive candidate for gene therapy, bone marrow transplant is currently the only treatment.[citation needed]
References
- PMID 10938133.
- PMID 29527204.
- ^ PMID 10931128.
- ^ "Immunologic Disease and Disorders". Archived from the original on 2007-02-17.
- PMID 11244040.
- PMID 10417269.
- ^ Online Mendelian Inheritance in Man (OMIM): 604571