Stüve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway

Clin Dysmorphol. 2019 Apr;28(2):57-62. doi: 10.1097/MCD.0000000000000255.

Abstract

Stüve-Wiedemann syndrome (OMIM #601559) is a rare, autosomal recessive disorder characterized by skeletal dysplasia, consecutive infections, feeding difficulties and autonomic dysregulation. We present an Afro-Caribbean family with two siblings diagnosed with Stüve-Wiedemann syndrome. The underlying loss-of-function mutation in the leukemia inhibitory factor receptor gene is thought to impair proper functioning of the JAK/STAT 3 pathway. As this affects normal functioning of T-helper cells, these patients are prone to infections with uncommon pathogens as illustrated by this case.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Exostoses, Multiple Hereditary / physiopathology*
  • Family
  • Female
  • Humans
  • Infant, Newborn
  • Janus Kinase 3 / physiology
  • Janus Kinases / physiology
  • Leukemia Inhibitory Factor Receptor alpha Subunit / genetics*
  • Leukemia Inhibitory Factor Receptor alpha Subunit / physiology
  • Male
  • Mutation
  • Osteochondrodysplasias / physiopathology*
  • Pedigree
  • STAT3 Transcription Factor / physiology
  • Siblings
  • Syndrome

Substances

  • LIFR protein, human
  • Leukemia Inhibitory Factor Receptor alpha Subunit
  • STAT3 Transcription Factor
  • STAT3 protein, human
  • JAK3 protein, human
  • Janus Kinase 3
  • Janus Kinases

Supplementary concepts

  • Stuve-Wiedemann syndrome