Bare Lymphocyte Syndrome

Question 1

MHC I Deficiency

Answer 1

Genes encoding TAP or tapasin
Bact sinopulm, necrotizing granulomatous skin lesions
Low CD8
Tx with Abx and pulm toilet

Question 2

MHC II Deficiency

Answer 2

Genes encoding TFs for MHCII: MCH2TA, RFX5, FRXAP, FRXANK
Infxns with all types in 1st year of life
Assoc with FTT, diarrhea, HSM
Low CD4 and IgG, absent germinal centers
Tx HSCT, IVIG, abx