Bcl11b defect in a human severe combined immunodeficiency with multisystem anomalies

ABSTRACT: Background: Severe combined immunodeficiency (SCID) is characterized by arrested T lymphocyte production and B lymphocyte dysfunction, resulting in life-threatening infections. Early diagnosis of SCID through population-based newborn screening (NBS) optimizes clinical management and outcomes, and also permits identification of previously unknown factors essential for human lymphocyte development. Methods: SCID was detected, prior to onset of infections, by NBS of T cell receptor excision circles, a biomarker for thymic output. Upon confirmation, the affected baby was treated by allogeneic hematopoietic cell transplantation (HCT). The genetic cause was sought by exome sequencing of the patient and parents, followed by functional analysis of a prioritized candidate gene using human hematopoi

ORGANISM(S): Homo sapiens

SUBMITTER: Divya Punwani 

PROVIDER: E-GEOD-84941 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress