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Results 1 - 5 of 5 for MHC class I deficiency 1
  1. Bare lymphocyte syndrome type II 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov MHC CLASS II DEFICIENCY 1; MHC2D1 PubMed Ahmed A, Reith W, Puck JM, ...
    https://medlineplus.gov/.../bare-lymphocyte-syndrome-type-ii - Genetics
  2. Bare lymphocyte syndrome type I 
    ... I deficiency National Organization for Rare Disorders (NORD) MHC CLASS I DEFICIENCY 1; MHC1D1 PubMed Eggensperger S, Tampe R. The transporter ...
    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. 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
  5. TAP2 gene 
    ... TAP2 in the functional integrity of the MHC class I-peptide-loading complex. J ... Science 1994 Apr 1;264(5155):16. Citation on PubMed Parcej D, ...
    https://medlineplus.gov/genetics/gene/tap2 - Genetics