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
  • defects in CIITA
  • defects in RFXAP
  • defects in RFXANK
  • defects in RFX5

Laboratory

• serum protein electrophoresis -> hypogammaglobulinemia

More general terms

• bare lymphocyte syndrome

Database

• OMIM: https://mirror.omim.org/entry/209920