Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome

Eur J Immunol. 2020 Jul;50(7):1078-1080. doi: 10.1002/eji.201948504. Epub 2020 Apr 20.

Abstract

AMPK (adenosine monophosphate-activated protein kinase) is phosphorylated (AMPK-P) in response to low energy through allosteric activation by Adenosine mono- or diphosphate (AMP/ADP). Folliculin (FLCN) and the FLCN-interacting proteins 1 and 2 (FNIP1, 2) modulate AMPK. FNIP1 deficiency patients have a AMPK-P gain of function phenotype with hypertrophic cardiomyopathy, Wolff-Parkinson-White pre-excitation syndrome, myopathy of skeletal muscles and combined immunodeficiency.

Keywords: B cell development; cardiomyopathy; immunodeficiency; metabolism; myopathy.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cardiomyopathies* / genetics
  • Cardiomyopathies* / immunology
  • Cardiomyopathies* / pathology
  • Carrier Proteins* / genetics
  • Carrier Proteins* / immunology
  • Female
  • Genes, Recessive*
  • Humans
  • Immunologic Deficiency Syndromes* / genetics
  • Immunologic Deficiency Syndromes* / immunology
  • Immunologic Deficiency Syndromes* / pathology
  • Male
  • Mutation*
  • Pre-Excitation Syndromes* / genetics
  • Pre-Excitation Syndromes* / immunology
  • Pre-Excitation Syndromes* / pathology

Substances

  • Carrier Proteins
  • FNIP1 protein, human