Lipid phosphoinositides are master regulators of almost all aspects of a cell's life and death
and are generated by the tightly regulated activity of phosphoinositide kinases. Although …

Patients with a diverse spectrum of rare genetic disorders can present with inflammatory
bowel disease (monogenic IBD). Patients with these disorders often develop symptoms …

Importance Newborn screening for severe combined immunodeficiency (SCID) using
assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and …

The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American
College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for …

Diarrhea is common in infants (children less than 2 years of age), usually acute, and, if
chronic, commonly caused by allergies and occasionally by infectious agents. Congenital …

Background: Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX)
Syndrome is a rare recessive disorder caused by mutations in the FOXP3 gene. In addition …

Background & Aims Very early onset inflammatory bowel diseases (VEOIBD), including
infant disorders, are a diverse group of diseases found in children younger than 6 years of …

Multiple intestinal atresia (MIA) is a rare cause of bowel obstruction that is sometimes
associated with a combined immunodeficiency (CID), leading to increased susceptibility to …

Objectives: Inflammatory bowel disease [IBD] presenting in early childhood is extremely
rare. More recently, progress has been made to identify children with monogenic forms of …

Monogenic intestinal epithelial disorders, also known as congenital diarrheas and
enteropathies (CoDEs), are a group of rare diseases that result from mutations in genes that …