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Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy

5 Jul 2022

Abstract excerpt

The 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 variant...

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PMID: 35789258
DOI: 10.1182/blood.2022015674

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