In the last years, advances in molecular genetics and immunology have resulted in the
identification of a growing number of genes causing primary immunodeficiencies (PIDs) in …

Inborn errors of metabolism (IEM) are a phenotypically and genetically heterogeneous
group of disorders caused by a defect in a metabolic pathway, leading to malfunctioning …

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

BACKGROUND: Hematopoietic stem cell transplantation remains the only treatment for most
patients with severe combined immunodeficiencies (SCIDs) or other primary …

Gastrointestinal disorders such as chronic or acute diarrhea, malabsorption, abdominal
pain, and inflammatory bowel diseases can indicate immune deficiency. The gastrointestinal …

Cystic fibrosis (CF) is a genetic disease with mutational changes leading to profound
dysbiosis, both pulmonary and intestinal, from a very young age. This dysbiosis plays an …

Severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) are
inborn errors of immune function that require prompt diagnosis and treatment to prevent life …

The most profound primary immunodeficiency disease, severe combined immunodeficiency
(SCID), is fatal in infancy unless affected infants are provided with an adaptive immune …

Context A newborn blood screening (NBS) test that could identify infants with a profound
deficiency of T cells may result in a reduction in mortality. Objective To determine if …

Purpose To describe the process and assess outcomes for the first 2 years of newborn
screening for severe combined immunodeficiency (SCID NBS) in New York State (NYS) …