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  • Title: Stüve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway.
    Author: Van De Maele K, Smulders C, Ecury-Goossen G, Rosina-Angelista I, Redeker E, van Haelst M.
    Journal: Clin Dysmorphol; 2019 Apr; 28(2):57-62. PubMed ID: 30614825.
    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.
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