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Results 1 - 10 of 23 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. Hepatic veno-occlusive disease with immunodeficiency 
    ... PubMed Wong M. Hepatic Veno-Occlusive Disease with Immunodeficiency. 2007 Feb 21 [updated 2025 Jan 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/...o-occlusive-disease-with-immunodeficiency - Genetics
  4. 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
  5. 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
  6. 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
  7. Omenn syndrome 
    ... is an inherited disorder of the immune system (immunodeficiency). Omenn syndrome is one of several forms of severe combined immunodeficiency (SCID), a group of disorders that cause individuals ...
    https://medlineplus.gov/genetics/condition/omenn-syndrome - Genetics
  8. Purine nucleoside phosphorylase deficiency 
    ... a disorder of the immune system called an immunodeficiency. Immunodeficiencies are conditions in which the immune system is ... cells, have a serious condition called severe combined immunodeficiency (SCID).The shortage of immune system cells in ...
    https://medlineplus.gov/...urine-nucleoside-phosphorylase-deficiency - Genetics
  9. Complement component 2 deficiency 
    ... system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is ... rheumatic disease. Medicine (Baltimore). 2005 Jan;84(1):23-34. doi: 10.1097/01.md.0000152371.22747. ...
    https://medlineplus.gov/.../complement-component-2-deficiency - Genetics
  10. STAT1 gene 
    ... caused by STAT1 gene mutations is sometimes called immunodeficiency 31C.The STAT1 gene mutations that have been ... the variety of features that can occur in immunodeficiency 31C, but the specific mechanisms are not well ...
    https://medlineplus.gov/genetics/gene/stat1 - Genetics
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