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Stüve–Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway

Year: 2019

Type: article

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.

Source: Clinical Dysmorphology

DOI: 10.1097/mcd.0000000000000255

Authors: Karolien Van De Maele, Charlotte Smulders, Ginette Ecury-Goossen, Irsa Rosina-Angelista, Egbert Redeker, Mieke van Haelst

Institutions: Universitair Ziekenhuis Brussel, University Medical Center Utrecht, St. Elisabeth Hospital, Curaçao Medical Center, Amsterdam UMC Location University of Amsterdam, Amsterdam UMC Location Vrije Universiteit Amsterdam

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2909338461

FWCI: 0.485

Cites: 11

Cited by: 10

Related to: 10