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Article

Candidate modifier genes for immune function in 22q11.2 deletion syndrome.

Molecular genetics & genomic medicine - 1 Jan 2020

Pinnaro Catherina T, Henry Travis, Major Heather J, Parida Mrutyunjaya, DesJardin Lucy E, Manak John R, Darbro Benjamin W

Abstract excerpt

BACKGROUND: The 22q11.2 deletion syndrome (22q11.2DS) is the most common contiguous microdeletion affecting humans and exhibits extreme phenotypic heterogeneity. Patients can manifest any combination of comorbidities including congenital heart disease, hypoparathyroidism, cleft palate, kidney abnormalities, neurodevelopmental disorders, and immune dysfunction. Immunodeficiency is present in the majority of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 31830774
DOI: 10.1002/mgg3.1057
PMCID: PMC6978229

Genes

EP300
LTA
NCOR2
TBX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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