Stüve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway.
Clin Dysmorphol
; 28(2): 57-62, 2019 Apr.
Article
em En
| MEDLINE
| ID: mdl-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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Base de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
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Exostose Múltipla Hereditária
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Subunidade alfa de Receptor de Fator Inibidor de Leucemia
Limite:
Adult
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Female
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Humans
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Male
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Newborn
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article