Inherited T Cell Defects: Diagnosis, Mechanisms and Treatments

Infants with abnormal newborn screen results for severe combined immunodeficiency (SCID) and their parents were enrolled in UCSF IRB approved protocols with informed consent to have molecular and immunologic investigation to determine the cause of the infant's low T lymphocytes. Studies included exome sequencing of DNA from the infant and both parents. Candidate variants were investigated in mouse and zebrafish model organisms.]]>
Inclusion: proband with unexplained T lymphopenia and first degree relative(s) available to enroll for whole genome sequencingExclusion: identified proband genotype or identified primary or environmental cause of T lymphopenia]]>