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Article

Genetic Mosaicism as a Cause of Inborn Errors of Immunity.

Journal of clinical immunology - 1 May 2021

Aluri Jahnavi, Cooper Megan A

Abstract excerpt

Inborn errors of immunity (IEIs) are a heterogeneous group of disorders due to genetic defects in the immune response that have a broad clinical spectrum. Diagnosis of the precise genetic cause of IEI has led to improved care and treatment of patients; however, genetic diagnosis using standard approaches is only successful in ~40% of patients and is particularly challenging in "sporadic" cases without a family...

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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: 33864184
DOI: 10.1007/s10875-021-01037-z
PMCID: PMC8068627

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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