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Results 1 - 10 of 13 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. 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. 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
  7. 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
  8. 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
  9. Familial candidiasis 
    ... acquired immune deficiency syndrome (AIDS) or severe combined immunodeficiency (SCID), medications, or other factors. Other individuals have ... for Rare Disorders (NORD) CANDIDIASIS, FAMILIAL, 1; CANDF1 IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS; IMD103 CANDIDIASIS, FAMILIAL, ...
    https://medlineplus.gov/genetics/condition/familial-candidiasis - Genetics
  10. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy 
    ... PubMed Constantine GM, Lionakis MS. Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. ...
    https://medlineplus.gov/...inopathy-candidiasis-ectodermal-dystrophy - Genetics
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