Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B
Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B
About this item
Full title
Author / Creator
Publisher
United States: Massachusetts Medical Society
Journal title
Language
English
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Publication information
Publisher
United States: Massachusetts Medical Society
Subjects
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Scope and Contents
Contents
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 immunod...
Alternative Titles
Full title
Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5215776
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5215776
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMoa1509164
