Aims/hypothesis Type 1 diabetes results from the autoimmune destruction of insulin-secreting
pancreatic beta cells by T cells. Despite the established role of T cells in the pathogenesis …

Identification of alterations in the cellular composition of the human immune system is key to
understanding the autoimmune process. Recently, a subset of FOXP3 + cells with low CD25 …

There is a broad phenotypic spectrum of monogenic polycystic kidney diseases (PKD). These
disorders often involve cilia-related genes and lead to the development of fluid-filled cysts …

Introduction Inborn errors of metabolism (IEMs) often result from single-gene mutations and
collectively cause liver dysfunction in neonates leading to chronic liver and systemic disease…

… Ramchandar N, Ding Y, Farnaes L, Dimmock D, Hobbs C, Kingsmore S, et al. Diagnosis
of cytomegalovirus infection from clinical whole genome sequencing. Sci Rep. … Other …

Classic alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare
congenital lung disorder presenting in the early neonatal period with refractory hypoxemic …

Background Neonatal hemophagocytic lymphohistiocytosis (nHLH), defined as HLH that
presents in the first month of life, is clinically devastating. There have been few large descriptive …

… 1 , Whitney S Thompson …

Gene editing for the cure of inborn errors of metabolism (IEMs) has been limited by
inefficiency of adult hepatocyte targeting. Here, we demonstrate that in utero CRISPR/Cas9-mediated …

Loss of heterozygosity in the SMARCA4 gene is a hallmark feature of small cell carcinoma of
the ovary, hypercalcemic type (SCCOHT), an aggressive ovarian cancer occurring in young …