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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.9 | NFATC1 |
Boaz Palterer gene: NFATC1 was added gene: NFATC1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: NFATC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFATC1 were set to 37249233 Phenotypes for gene: NFATC1 were set to recurrent infections; hypogammaglobulinemia; decreased antibody responses Penetrance for gene: NFATC1 were set to unknown Review for gene: NFATC1 was set to RED Added comment: NFATC1 encodes the nuclear factor of activated T cells 1, a key transcription factor critical for T and B cell activation, proliferation, and adaptive immune homeostasis. Kostel Bal et al. identified 3 patients from 1 family carrying biallelic pathogenic NFATC1 missense variants presenting with recurrent infections, hypogammaglobulinemia, and decreased antibody responses due to these profound metabolic and proliferative defects. Sources: Literature |
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