FNIP1-associated syndrome
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.
MONDO:0021094
immunodeficiency disease
is_a
FNIP1 deficiency
exact
absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy syndrome
exact
immunodeficiency with cardiomyopathy and pre-excitation syndrome
exact