Results 1 -
10
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28
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Severe "T-cell" immunodeficiency
- ... dysgenesis Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency Pignata Guarino syndrome Winged helix deficiency Genetic Testing ...
- ... deficiency Severe combined immunodeficiency due to ADA deficiency Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due ...
- ... combined immunodeficiency National Organization for Rare Disorders (NORD) SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE PubMed ...
- ... L, Koupaei RA, Puck JM. Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017. Pediatrics. 2019 Feb;143(2):e20182300. doi: 10.1542/peds.2018-2300. Citation on PubMed ... immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol. ...
- ... recombination-activating protein 1 Tests of RAG1 PubMed SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE RECOMBINATION- ...
- ... recombination-activating protein 2 Tests of RAG2 PubMed SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE RECOMBINATION- ...
- ... JT, Buckley R. Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. Genet Med. 2004 Jan-Feb;6( ...
- ... destruction. The most severely affected individuals, who lack T cells and B cells, have a serious condition called severe combined immunodeficiency (SCID).The shortage of immune system cells in ...
- ... show signs and symptoms of the condition. Selective T-cell defect ZAP70-related SCID Zeta-associated protein 70 deficiency Genetic Testing Registry: ZAP70-Related Severe Combined Immunodeficiency Combined immunodeficiency due to ZAP70 deficiency National Organization ...
- ... reduced numbers of these cells. A shortage of T cells impairs the immune response to foreign invaders, accounting for the severe skin infections common in DOCK8 immunodeficiency syndrome. A lack of DOCK8 protein also impairs ...
