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Biallelic changes in the ZNFX1 gene have been recently reported to cause severe familial immunodeficiency. Through a search of our bio/databank with information from genetic testing of >55 000 individuals, we identified nine additional patients from seven families with six novel homozygous ZNFX1 variants. Consistent with the previously described phenotype, our patients suffered from monocytosis,...
STIM1, the stromal interaction molecule 1, is the key protein for maintaining calcium concentration in the endoplasmic reticulum by triggering the Store Operated Calcium Entry (SOCE). Bi‐allelic mutations in STIM1 gene are responsible for a loss‐of‐function in patients affected with a CRAC channelopathy syndrome in which severe combined immunodeficiency syndrome (SCID‐like), autoimmunity, ectodermal...
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