Stüve–Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway
| Autor: | Irsa Rosina-Angelista, Ginette M. Ecury-Goossen, Karolien Van De Maele, Charlotte A. Smulders, Mieke M. van Haelst, Egbert J.W. Redeker |
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| Přispěvatelé: | Faculty of Medicine and Pharmacy, Pediatrics, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Human Genetics, ACS - Pulmonary hypertension & thrombosis |
| Rok vydání: | 2019 |
| Předmět: |
Adult
Male STAT3 Transcription Factor leukemia inhibitory factor receptor congenital hereditary and neonatal diseases and abnormalities Leukemia Inhibitory Factor Receptor alpha Subunit Leukemia inhibitory factor receptor Osteochondrodysplasias medicine.disease_cause stat Pathology and Forensic Medicine 03 medical and health sciences JAK/STAT 3 pathway medicine Humans Autonomic dysregulation Abnormalities Multiple Family Genetics(clinical) Pediatrics Perinatology and Child Health Gene Genetics (clinical) Janus Kinases 030304 developmental biology 0303 health sciences Mutation neonatal infections business.industry Siblings 030305 genetics & heredity Infant Newborn Stüve-Wiedemann syndrome Janus Kinase 3 JAK-STAT signaling pathway Syndrome General Medicine medicine.disease STUVE-WIEDEMANN SYNDROME Pedigree Dysplasia Pediatrics Perinatology and Child Health Immunology Female Anatomy business Exostoses Multiple Hereditary |
| Zdroj: | Clinical Dysmorphology, 28(2), 57-62. Lippincott Williams and Wilkins van de Maele, K, Smulders, C, Ecury-Goossen, G, Rosina-Angelista, I, Redeker, E & van Haelst, M 2019, ' Stuve-Wiedemann syndrome : Recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway ', Clinical Dysmorphology, vol. 28, no. 2, pp. 57-62 . https://doi.org/10.1097/MCD.0000000000000255 Clinical dysmorphology, 28(2), 57-62. Lippincott Williams and Wilkins |
| ISSN: | 0962-8827 |
| DOI: | 10.1097/mcd.0000000000000255 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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