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

OBJECTIVES: Newborn screening for severe combined immunodeficiency (SCID) was
instituted in California in 2010. In the ensuing 6.5 years, 3 252 156 infants in the state had …

The Old Order Amish and Old Order Mennonite populations of Pennsylvania are descended
from Swiss Anabaptist immigrants who came to the New World in the early eighteenth …

The Clinic for Special Children (CSC) has integrated biochemical and molecular methods
into a rural pediatric practice serving Old Order Amish and Mennonite (Plain) children …

Severe combined immunodeficiency (SCID) is effectively treated with hematopoietic cell
transplantation (HCT), with overall survival approaching 90% in contemporary reports …

CODAS syndrome is a multi-system developmental disorder characterized by cerebral,
ocular, dental, auricular, and skeletal anomalies. Using whole-exome and Sanger …

We studied a unique phenotype of cognitive delay, autistic behavior, and gait instability
segregating in three separate sibships. We initiated genome‐wide mapping in two sibships …

In 1989, we established a small community health clinic to provide care for uninsured Amish
and Mennonite children with genetic disorders. Over 20 years, we have used publicly …

Background: Variants in recombination-activating genes (RAG) are common genetic causes
of autosomal recessive forms of combined immunodeficiencies (CID) ranging from severe …

BACKGROUND: Plain children often have lower immunization rates than non-Plain children.
Penn State Health Children's Hospital is a tertiary medical center with large nearby Plain …