A rare syndrome leading to immunodeficiency: Zhu-Tokita-Takenouchi-Kim syndrome

Abstract

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, a rare autosomal dominant genetic disease, is caused by a loss-of-function mutation in the SON gene, first described in 2015. The clinical features of the disease are dysmorphic craniofacial appearance, hypotonia, brain malformations, intellectual disability, musculoskeletal abnormalities, and congenital heart and genito-urinary system defects. The literature about ZTTK syndrome is limited, and the majority of them focus on clinical and genetic findings. Here, we present an immunocompromised patient with ZTTK syndrome due to a de novo mutation in the SON gene. There are no published data about the detailed immunologic parameters of ZTTK syndrome.