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A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathyNARA Subscribed
Genetic variants in Folli culin inte racting protein 1 (FNIP1) were recently discovered as monogenic causes for immunodeficiency and cardiomyopathy, with only a few patients diagnosed thus far. In this study, we describe a patient harboring a novel genetic variant in FNIP1 causing immunodeficiency with cardiac involvement. Clinical and immunological workups were performed. Genetic evaluation utilizing whole-exome sequencing (W...
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