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Article

Do ribosomopathies explain some cases of common variable immunodeficiency?

Clinical and experimental immunology - 1 Jan 2011

Khan S, Pereira J, Darbyshire P J, Holding S, Doré P C, Sewell W A C, Huissoon A

Abstract excerpt

The considerable clinical heterogeneity of patients with common variable immunodeficiency disorders (CVID) shares some similarity with bone-marrow failure disorders such as Diamond-Blackfan anaemia (DBA) and Shwachman-Diamond syndrome (SDS), now recognized as defects in ribosome biogenesis or rib...

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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: 21062271
DOI: 10.1111/j.1365-2249.2010.04280.x
PMCID: PMC3010916

Genes

SBDS
SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21062271-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?Semantic proximity Read ↗

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