Article

Human germline biallelic complete NFAT1 deficiency causes the triad of progressive joint contractures, osteochondromas, and susceptibility to B cell malignancy

2022-02-03

Abstract excerpt

<h4>ABSTRACT</h4> Discovery of humans with monogenic disorders has a rich history of generating new insights into biology. Here we report the first human identified with complete deficiency of nuclear factor of activated T cells 1 (NFAT1). NFAT1, encoded by NFATC2 , mediates calcium-calcineurin signals that drive cell activation, proliferation, and survival. The patient is homozygous for a damaging germline NFATC2...

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Literature Corpus work: 5edc4378-635f-5516-89b8-940e0bd3508b
DOI: 10.1101/2022.01.30.22269378

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Human germline biallelic complete NFAT1 deficiency causes the triad of progressive joint contractures, osteochondromas, and susceptibility to B cell malignancyDOI 10.1101/2022.01.30.22269378Read

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