{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T19:12:30Z","timestamp":1768417950547,"version":"3.49.0"},"reference-count":11,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:p>St\u00fcve\u2013Wiedemann 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 St\u00fcve\u2013Wiedemann 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.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000255","type":"journal-article","created":{"date-parts":[[2019,1,8]],"date-time":"2019-01-08T20:17:10Z","timestamp":1546978630000},"page":"57-62","source":"Crossref","is-referenced-by-count":8,"title":["St\u00fcve\u2013Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK\/STAT 3 pathway"],"prefix":"10.1097","volume":"28","author":[{"given":"Karolien","family":"Van De Maele","sequence":"first","affiliation":[{"name":"Department of Pediatrics (KidZ Health Castle), University Hospital Brussels, Jette, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte","family":"Smulders","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University Medical Center Utrecht, 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