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Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency

26 Nov 2022

Abstract excerpt

IKAROS/IKZF1 plays a pivotal role in lymphocyte differentiation and development. Germline mutations in IKZF1, which have been shown to be associated with primary immunodeficiency, can be classified through four different mechanisms of action depending on the protein expression and its functional defects: haploinsufficiency, dimerization defective, dominant negative, and gain of function. These different...

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PMID: 36433803
DOI: 10.1093/cei/uxac109

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