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Stüve–Wiedemann syndrome

recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway

Van De Maele, Karoliena; Smulders, Charlotteb; Ecury-Goossen, Ginettee; Rosina-Angelista, Irsae; Redeker, Egbertc; van Haelst, Miekec,d

doi: 10.1097/MCD.0000000000000255
ORIGINAL ARTICLES
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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.

aDepartment of Pediatrics (KidZ Health Castle), University Hospital Brussels, Jette, Belgium

bDepartment of Paediatrics, University Medical Center Utrecht, Utrecht

cDepartment of Clinical Genetics, Academic Medical Center Amsterdam

dDepartment of Clinical Genetics, VU University Medical Center Amsterdam, Amsterdam, The Netherlands

eDepartment of Pediatrics and Neonatology, Sint Elisabeth Hospitaal Curaçao, Otrobanda, Willemstad, Curaçao

Correspondence to Karolien Van De Maele, MD, Department of Pediatrics (KidZ Health Castle), University Hospital Brussels, Laarbeeklaan 101, 1090 Jette, Belgium Tel: +32 24 774 188; fax: +32 24 775 783; e-mail: karolien.vandemaele@uzbrussel.be

Received June 26, 2018

Accepted December 5, 2018

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