FNIP1-associated syndrome

Definition

Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome.

Also known as absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy syndrome, FNIP1 deficiency, immunodeficiency with cardiomyopathy and pre-excitation syndrome — per MONDO