Van De Maele Karolien, Smulders Charlotte, Ecury-Goossen Ginette, Rosina-Angelista Irsa, Redeker Egbert, van Haelst Mieke
Department of Pediatrics (KidZ Health Castle), University Hospital Brussels, Jette, Belgium.
Department of Paediatrics, University Medical Center Utrecht, Utrecht.
Clin Dysmorphol. 2019 Apr;28(2):57-62. doi: 10.1097/MCD.0000000000000255.
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.
施特维-维德曼综合征（OMIM #601559）是一种罕见的常染色体隐性疾病，其特征为骨骼发育异常、反复感染、喂养困难和自主神经调节异常。我们报告了一个非裔加勒比家庭，该家庭中有两名兄弟姐妹被诊断患有施特维-维德曼综合征。白血病抑制因子受体基因潜在的功能丧失突变被认为会损害JAK/STAT 3信号通路的正常功能。由于这会影响辅助性T细胞的正常功能，如本病例所示，这些患者容易感染罕见病原体。
