Excessive deubiquitination of NLRP3-R779C variant contributes to very-early-onset inflammatory bowel disease development.

Background: Very-early-onset inflammatory bowel disease (VEOIBD) is a chronic inflammatory disease of the gastrointestinal tract occurring during infancy or early childhood. NOD-like receptor family, pyrin domain containing 3 (NLRP3) inflammasome has emerged as a crucial regulator of intestinal homeostasis; however, whether NLRP3 variants may modify VEOIBD risk is unknown.

Objective: We sought to investigate whether and how a rare NLRP3 variant, found in 3 patients with gastrointestinal symptoms, contributes to VEOIBD development.

RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease.

Background: Autoimmune lymphoproliferative syndrome (ALPS) is a genetic disorder of lymphocyte homeostasis due to impaired apoptosis. It was initially regarded as a very rare disease, but recent studies show that it may be more common than previously thought. Defects in a couple of genes have been identified in a proportion of patients with ALPS, but around one-third of such patients remain undefined genetically.

Left ventricular noncompaction in children.

Objective: Left ventricular noncompaction (LVNC) is an uncommon type of cardiomyopathy in children. We sought to determine the clinical presentations and outcomes of children diagnosed to have LVNC.

Design: The case records of children diagnosed to have LVNC between 1999 and 2007 were reviewed.