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Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B
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Journal Article
Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B
2016
Overview
Screening of newborns identified an infant with immune deficiency and multisystem developmental defects. Sequencing revealed a heterozygous
BCL11B
mutation. Mechanistic studies showed that the mutant was a dominant negative that prevented the normal allele from functioning.
Population-based screening of newborns for severe combined immunodeficiency (SCID) involves the quantification of blood levels of T-cell–receptor excision circles (TRECs), which are DNA by-products of T-cell–receptor rearrangement that indicate thymic production of naive T cells.
1
Inadequate TREC levels prompt immunologic investigation to diagnose SCID before infections occur, which permits the timely initiation of therapy; therapy usually involves allogeneic hematopoietic stem-cell transplantation from a healthy donor.
2
In addition to enhancing the efficacy of treatment,
2
,
3
newborn screening can reveal previously unknown causes of T-cell lymphopenia.
1
,
4
–
7
Whole-exome sequencing in persons with rare disorders of immunity has led to the identification . . .
Publisher
Massachusetts Medical Society
Subject
Abnormalities, Multiple - genetics
/ Animals
/ DNA
/ Embryos
/ Hematopoietic Stem Cell Transplantation
/ Hematopoietic Stem Cells - metabolism
/ Hematopoietic Stem Cells - physiology
/ Humans
/ Male
/ Mutation
/ Neonatal Screening - methods
/ Neonates
/ Patients
/ Proteins
/ Repressor Proteins - deficiency
/ Repressor Proteins - genetics
/ Repressor Proteins - metabolism
/ Severe combined immunodeficiency
/ Severe Combined Immunodeficiency - genetics
/ Skin
/ Thymus
/ Tumor Suppressor Proteins - deficiency
/ Tumor Suppressor Proteins - genetics
