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Results 1 - 10 of 61 for Immunodeficiency 23
  1. PGM3-congenital disorder of glycosylation 
    ... acetylglucosamine-phosphate mutase 1 Deficiency of phosphoglucomutase 3 Immunodeficiency 23 Immunodeficiency with hyper IgE and cognitive impairment Immunodeficiency- ...
    https://medlineplus.gov/...pgm3-congenital-disorder-of-glycosylation - Genetics
  2. ZAP70-related severe combined immunodeficiency 
    ... Walkovich K, Vander Lugt M. ZAP70-Related Combined Immunodeficiency. 2009 Oct 20 [updated 2021 Sep 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; ... Citation on PubMed
    https://medlineplus.gov/...-related-severe-combined-immunodeficiency - Genetics
  3. ZAP70 gene 
    ... Walkovich K, Vander Lugt M. ZAP70-Related Combined Immunodeficiency. 2009 Oct 20 [updated 2021 Sep 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/genetics/gene/zap70 - Genetics
  4. TRNT1 deficiency 
    ... novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Blood. 2013 Jul 4;122(1):112-23. doi: 10.1182/blood-2012-08-439083. Epub ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  5. T-cell immunodeficiency, congenital alopecia, and nail dystrophy 
    ... nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs. Am J Med Genet. 1996 Oct 16;65(2):167-70. doi: 10.1002/(SICI)1096-8628(19961016)65:23.0.CO;2-O. Citation on PubMed Pignata ...
    https://medlineplus.gov/...cy-congenital-alopecia-and-nail-dystrophy - Genetics
  6. Nijmegen breakage syndrome 
    Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory ...
    https://medlineplus.gov/.../condition/nijmegen-breakage-syndrome - Genetics
  7. HIV/AIDS 
    ... Services Task Force Recommendation Statement. JAMA . 2019;321(23):2326-2336. PMID: 31184701 pubmed.ncbi.nlm.nih.gov/31184701/ . Verma A, Berger JR. Neurological manifestations of human immunodeficiency virus infection in adults. In: Jankovic J, Mazziotta ...
    https://medlineplus.gov/ency/article/000594.htm - Medical Encyclopedia
  8. DOCK8 immunodeficiency syndrome 
    DOCK8 immunodeficiency syndrome is a disorder of the immune system. The condition is characterized by recurrent infections that are severe and can be life- ...
    https://medlineplus.gov/.../dock8-immunodeficiency-syndrome - Genetics
  9. Screening and diagnosis for HIV 
    ... F, Dewar R, Maldarelli F. Diagnosis of human immunodeficiency virus ... . 2019;321(23):2326-2336. PMID: 31184701 pubmed.ncbi.nlm.nih. ...
    https://medlineplus.gov/ency/article/003538.htm - Medical Encyclopedia
  10. Griscelli syndrome 
    ... signs and symptoms of the condition. GS Hypopigmentation immunodeficiency disease Partial albinism with immunodeficiency Genetic Testing Registry: Griscelli syndrome type 1 Genetic ...
    https://medlineplus.gov/genetics/condition/griscelli-syndrome - Genetics
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