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Results 1 - 8 of 8 for Immunodeficiency 47
  1. ZAP70-related severe combined immunodeficiency 
    ... available. Citation on PubMed Elder ME. T-cell immunodeficiencies. Pediatr Clin North Am. 2000 Dec;47(6):1253-74. doi: 10.1016/s0031-3955(05)70270-4. Citation on PubMed Grunebaum E, Sharfe N, Roifman CM. Human T cell immunodeficiency: when signal transduction goes wrong. Immunol Res. 2006; ...
    https://medlineplus.gov/...-related-severe-combined-immunodeficiency - Genetics
  2. ZAP70 gene 
    ... available. Citation on PubMed Elder ME. T-cell immunodeficiencies. Pediatr Clin North Am. 2000 Dec;47(6):1253-74. doi: 10.1016/s0031-3955(05)70270-4. Citation on PubMed Grunebaum E, Sharfe N, Roifman CM. Human T cell immunodeficiency: when signal transduction goes wrong. Immunol Res. 2006; ...
    https://medlineplus.gov/genetics/gene/zap70 - Genetics
  3. HIVEP2 gene 
    ... SHN2 ZAS2 ZNF40B Tests of HIVEP2 ... II expression by transcription factors MIBP1 and SEF-2 in the murine brain. Mol Cell Biol. 1999 May;19(5):3736-47. doi: 10.1128/MCB.19.5.3736. Citation ...
    https://medlineplus.gov/genetics/gene/hivep2 - Genetics
  4. TRNT1 gene 
    ... mitochondrial isoform 2 CCA-adding enzyme CCA1 CGI-47 mitochondrial CCA-adding tRNA-nucleotidyltransferase mt CCA-adding ... Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood. 2014 Oct ...
    https://medlineplus.gov/genetics/gene/trnt1 - Genetics
  5. X-linked hyper IgM syndrome 
    ... J Pediatr. 1997 Jul;131(1 Pt 1):47-54. doi: 10.1016/s0022-3476(97)70123- ...
    https://medlineplus.gov/.../condition/x-linked-hyper-igm-syndrome - Genetics
  6. IKBKG gene 
    ... of pathophysiology. J Am Acad Dermatol. 2002 Aug;47(2):169-87; quiz 188-90. doi: 10. ... Casanova JL. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat ...
    https://medlineplus.gov/genetics/gene/ikbkg - Genetics
  7. Small fiber neuropathy 
    ... Sci U S A. 2012 Nov 20;109(47):19444-9. doi: 10.1073/pnas.1216080109. Epub ...
    https://medlineplus.gov/genetics/condition/small-fiber-neuropathy - Genetics
  8. SAMHD1 gene 
    ... Aicardi-Goutieres Syndrome and Beyond. Neuropediatrics. 2016 Dec;47(6):355-360. doi: 10.1055/s-0036- ...
    https://medlineplus.gov/genetics/gene/samhd1 - Genetics