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Results 1 - 6 of 6 for MHC class I deficiency 2
  1. Bare lymphocyte syndrome type I 
    ... A novel mutation in TAP1 gene leading to MHC class I deficiency: Report of two cases and review of the literature. Clin Immunol. ...
    https://medlineplus.gov/.../bare-lymphocyte-syndrome-type-i - Genetics
  2. 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 2017 Feb 2. Citation on ... of peptides by the MHC-encoded transporter. Science. 1993 Aug 6;261(5122): ...
    https://medlineplus.gov/genetics/gene/tap1 - Genetics
  3. Bare lymphocyte syndrome type II 
    ... negative Genetic Testing Registry: Bare lymphocyte syndrome type 2, complementation group A Genetic Testing Registry: MHC CLASS II DEFICIENCY 3 Immunodeficiency by defective expression of MHC class ...
    https://medlineplus.gov/.../bare-lymphocyte-syndrome-type-ii - Genetics
  4. CIITA gene 
    ... Steimle V, Ucla C, Eibl MM, Mach B. Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A. Hum Genet. 1997 Apr;99( ...
    https://medlineplus.gov/genetics/gene/ciita - Genetics
  5. 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
  6. TAP2 gene 
    ... PubMed TRANSPORTER, ATP-BINDING CASSETTE, MAJOR ... site of TAP2 in the functional integrity of the MHC class I-peptide-loading complex. J Immunol. 2005 Oct ...
    https://medlineplus.gov/genetics/gene/tap2 - Genetics