A successful pregnancy is a complicated process that builds upon two aspects of the maternal immune system that need to be balanced. As one of the indispensable groups of immune cell at the maternal–fetal interface, the decidual gamma/delta (γδ) T cells have attracted research attention in normal pregnancy and miscarriage. However, the role of γδ T cells in fetal growth remains poorly understood. Here, we found that the γδ T-cell population resident in decidua during early pregnancy was enriched and secreted growth factors including growth differentiation factor 15 and bone morphogenetic protein 1. A diminution in such growth factors may impair fetal development and result in fetal growth restriction. We also observed that early decidual γδ T cells exhibited stronger cytokine-secretion characteristics, but that their cytotoxic actions against A549 cells were weaker, compared with γδ T cells in peripheral blood mononuclear cells (PBMCs). In addition, the functional abilities of early decidual γδ T cells in promoting trophoblast cell proliferation, migration, invasion and tube formation were also significantly more robust than in γδ T cells of PBMCs. These findings highlight the importance of γδ T cells in fetal growth and maternal immunotolerance during pregnancy and show that they differ from γδ T cells in PBMCs. We thus recommend additional investigation in this research area to further elucidate a role for γδ T cells in pregnancy.

Squamous cell carcinomas (SCCs) are the most common ectodermal cancers, and result in more than 300,000 deaths per year. The Krüppel-like family of transcription factors play a critical role in cancer pathogenesis. The Krüppel-like factor 5 gene ( KLF5 ), which is a member of Krüppel-like family, has been reported to promote cancer cell proliferation and tumorigenesis. In this review, we discuss the roles of KLF5 in different SCCs and the mechanisms by which KLF5 transcriptionally regulates its target gene expression in the pathogenesis and progression of SCCs. Due to its significant functions in cell proliferation and differentiation, KLF5 could be a novel diagnostic biomarker and therapeutic target for the treatment of SCCs.

Rationale: Dyschromatosis universalis hereditaria (DUH) is an uncommon form of pigmented genodermatosis that is typically inherited autosomally and dominantly. In the previous study, the pathogenic genes of DUH have been identified in ATP-binding cassette subfamily B, member 6 and SASH1 . However, the mutational screening of the causative gene remains incomplete and still lacks sufficient proof in the etiology. Patient concerns: A 2-generation Chinese family clinically diagnosed with DUH were enrolled. They showed pigmented spots from their childhood and came to the hospital for medical advice and genetic analysis. We found a novel mutation c.1757T > C (p.I586T) of SASH1 in 3 affected family members by whole-exome sequencing. Diagnoses: Genetic outcomes and clinical examinations confirmed the diagnosis of DUH in 3 family members with lentiginous syndrome. Interventions and outcomes: Using whole-exome sequencing and sanger sequencing technologies, we identified a novel mutation c.1757T > C (p.I586T) of SASH1 that co-segregated in 3 afflicted family members but not in the normal individuals. Significantly, c.1757T > C (p.I586T) is a novel mutation which had not been previously reported. The same codon position in SASH1 (c.1758C > G, p.I586M) has been reported in a Japanese man, and he showed identical phenotype compared to our study participants. Lessons: Our study broadens the spectrum of DUH mutations and provides more genetic characteristics of DUH in understanding its etiology. Furthermore, we demonstrated the diagnostic accuracy of whole-exome sequencing for inherited skin diseases and provided new information for etiological study.