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bare lymphocyte syndrome type-2; BLS type 2; hereditary MHC class 2 deficiency; HLA class 2-deficient combined immunodeficiency (BLS-2)
Pathology:
- absence of HLA antigens on peripheral mononuclear cells,
- defect in constitutive & interferon-gamma induced MHC II expression
- absence of cellular & humoral T-cell response to antigen challenge
- early onset of severe combined immunodeficiency
- susceptibility to viral, bacterial & fungal infections
- pathology of the gut (diarrhea)
- systemic infections have not been described in HLA class 1- deficient patients
Genetics:
- associated with defects in RFX-CIITA transcriptional complex
a) defects in CIITA
b) defects in RFXAP
c) defects in RFXANK
d) defects in RFX5
Laboratory:
- serum protein electrophoresis -> hypogammaglobulinemia
General
bare lymphocyte syndrome
Database Correlations
OMIM 209920
References
OMIM :accession 604571