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See Latest ArticlesSTIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity
New England Journal of Medicine, 05/08/09
Picard C et al. - Combined immunodeficiency disease can be caused by mutations in a variety of genes. Principal features of the disease involve impaired function of T, B, or natural killer cells, despite their normal development. Study describes 3 siblings with a complex immunodeficiency disorder, and details are as follows:
- Of the 3 siblings, 2 had autoimmune hemolytic anemia and immune thrombocytopenia and the third, a boy had only one episode of thrombocytopenia
- Other clinical features were hepatosplenomegaly, lymphadenopathy, and, in the boy, hypoglycemia
- The 3 siblings did not have clinical features of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome which is due to FOXP3 deficiency
- The nonprogressive muscular hypotonia seen in all 3 siblings correlated with a similar phenotype in pts with ORAI1 deficiency and with the defect in muscle development and function in Stim1-deficient mice
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Today in Autoimmune/Heritable...keeping you current
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Today in Basic Science/Genetics...keeping you current
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