TY - JOUR
T1 - Stuve-Wiedemann syndrome
T2 - Recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway
AU - van de Maele, Karolien
AU - Smulders, Charlotte
AU - Ecury-Goossen, Ginette
AU - Rosina-Angelista, Irsa
AU - Redeker, Egbert
AU - van Haelst, Mieke
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
KW - JAK/STAT 3 pathway
KW - Stüve-Wiedemann syndrome
KW - leukemia inhibitory factor receptor
KW - neonatal infections
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85062707925&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/30614825
U2 - https://doi.org/10.1097/MCD.0000000000000255
DO - https://doi.org/10.1097/MCD.0000000000000255
M3 - Article
C2 - 30614825
SN - 0962-8827
VL - 28
SP - 57
EP - 62
JO - Clinical Dysmorphology
JF - Clinical Dysmorphology
IS - 2
ER -