Stüve–Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway. Issue 2 (April 2019)

• Record Type: Journal Article
• Authors: Van De Maele, Karolien; Smulders, Charlotte; Ecury-Goossen, Ginette; Rosina-Angelista, Irsa; Redeker, Egbert; van Haelst, Mieke
• Is Part Of: Clinical dysmorphology. Volume 28:Issue 2(2019:Apr.)
• Publication Date: 2019-04
• Subjects: JAK/STAT 3 pathway -- leukemia inhibitory factor receptor -- neonatal infections -- Stüve–Wiedemann syndrome; Abnormalities, Human -- Periodicals; Genetic disorders -- Periodicals; Abnormalities -- periodicals; Abnormalities, Human; Periodicals; 616.042
• DOI: 10.1097/MCD.0000000000000255
• Languages: English
• ISSNs: 0962-8827

Abstract

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.