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Results 1 - 8 of 8 for MHC class I deficiency
  1. Bare lymphocyte syndrome type II 
    ... type II Major histocompatibility complex class II deficiency MHC class II deficiency SCID due to absence of class II HLA ... for the constitutive and CIITA-mediated transactivation of MHC class I and ... complex class II deficiency. Arch Dis Child. 2000 Oct;83(4):356- ...
    https://medlineplus.gov/.../bare-lymphocyte-syndrome-type-ii - Genetics
  2. Bare lymphocyte syndrome type I 
    ... condition. HLA class I deficiency Genetic Testing Registry: MHC class I deficiency National Organization for Rare Disorders (NORD) BARE LYMPHOCYTE ... A novel mutation in TAP1 gene leading to MHC class I deficiency: Report of two cases and review of the ...
    https://medlineplus.gov/.../bare-lymphocyte-syndrome-type-i - Genetics
  3. RFXANK gene 
    ... associated transactivator is mutated in the majority of MHC class II deficiency patients. Nat Genet. 1998 Nov;20(3):273-7. doi: 10.1038/3081. Citation on PubMed
    https://medlineplus.gov/genetics/gene/rfxank - Genetics
  4. CIITA gene 
    ... II transactivator CIITA in a second patient from MHC class II deficiency complementation group A. Hum Genet. 1997 Apr;99(4):541-6. doi: 10.1007/s004390050403. Citation on PubMed Devaiah BN, Singer DS. CIITA and Its Dual Roles in MHC Gene Transcription. Front Immunol. 2013 Dec 20;4: ...
    https://medlineplus.gov/genetics/gene/ciita - Genetics
  5. TAP1 gene 
    ... A novel mutation in TAP1 gene leading to MHC class I deficiency: Report of two cases and review of the literature. Clin Immunol. 2017 May;178:74-78. doi: 10.1016/j.clim.2017.01.011. Epub ... of peptides by the MHC-encoded transporter. Science. 1993 Aug 6;261(5122): ...
    https://medlineplus.gov/genetics/gene/tap1 - Genetics
  6. RFXAP gene 
    ... regulator of MHC class II genes, in primary MHC class II deficiency. N Engl J Med. 1997 Sep 11;337( ...
    https://medlineplus.gov/genetics/gene/rfxap - Genetics
  7. RFX5 gene 
    ... factor affected in major histocompatibility complex class II deficiency. Hum Mutat. 1997;10(6):430-5. doi: 10.1002/(SICI)1098-1004(1997)10:63.0.CO;2-H. Citation on PubMed
    https://medlineplus.gov/genetics/gene/rfx5 - Genetics
  8. TAP2 gene 
    ... the peptides are attached to major histocompatibility complex (MHC) class I proteins. The peptide-bound MHC class I proteins are then moved to the surface ...
    https://medlineplus.gov/genetics/gene/tap2 - Genetics