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Article

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

Clinical immunology (Orlando, Fla.) - 1 Oct 2015

van Schouwenburg Pauline A, Davenport Emma E, Kienzler Anne-Kathrin, Marwah Ishita, Wright Benjamin, Lucas Mary, Malinauskas Tomas, Martin Hilary C, Lockstone Helen E, Cazier Jean-Baptiste, Chapel Helen M, Knight Julian C, Patel Smita Y

Abstract excerpt

Common Variable Immunodeficiency Disorders (CVIDs) are the most prevalent cause of primary antibody failure. CVIDs are highly variable and a genetic causes have been identified in <5% of patients. Here, we performed whole genome sequencing (WGS) of 34 CVID patients (94% sporadic) and combined them with transcriptomic profiling (RNA-sequencing of B cells) from three patients and three healthy controls. We...

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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: 26122175
DOI: 10.1016/j.clim.2015.05.020
PMCID: PMC4601528

Genes

ICOS
LRBA
NLRP12

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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