Stuve-Wiedemann syndrome: Recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway

Karolien van de Maele, Charlotte Smulders, Ginette Ecury-Goossen, Irsa Rosina-Angelista, Egbert Redeker, Mieke van Haelst

Research output: Contribution to journalArticleAcademicpeer-review

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.
Original languageEnglish
Pages (from-to)57-62
JournalClinical Dysmorphology
Volume28
Issue number2
DOIs
Publication statusPublished - 2019

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