MHC class I deficiency can also cause SCID
couldn't find anything about either class I or II in FA or Amboss in the SCID section.
But in the Cellular and Molecular Immunology textbook (9ed)
pg 465, table 21.3 Severe Combined Immunodeficiencies
under "Defective Thymic Development"
among others, there are:
- Bare lymphocyte syndrome
Functional Deficiency: Defective MHC class II expression and deficiency in CD4+ T cells; defective cell-mediated immunity and T-dependent humoral immune responses.
Mechanism of Defect: Defects in transcription factors regulating MHC class II gene expression, including CIITA, RFXANK, RFX5, and RFXAP
- MHC class I deficiency:
Functional Deficiency: Decreased MHC class I levels; reduced CD8+ T cells
Mechanism of Defect: Mutations in TAP1, TAP2, and TAPASIN
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