Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.

ABSTRACT:

Background

Severe combined immunodeficiency (SCID) is characterized by arrested T-lymphocyte production and by B-lymphocyte dysfunction, which result in life-threatening infections. Early diagnosis of SCID through population-based screening of newborns can aid clinical management and help improve outcomes; it also permits the identification of previously unknown factors that are essential for lymphocyte development in humans.

Methods

SCID was detected in a newborn before the onset of infections by means of screening of T-cell-receptor excision circles, a biomarker for thymic output. On confirmation of the condition, the affected infant was treated with allogeneic hematopoietic stem-cell transplantation. Exome sequencing in the patient and parents was followed by functional a

SUBMITTER: Punwani D 

PROVIDER: S-EPMC5215776 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature