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Article

A novel loss of function mutation in the PHD domain of the RAG2 gene, affecting zinc-binding affinity.

Molecular biology reports - 1 Oct 2023

Jabbarpour Neda, Bonyadi Mortaza, Sadeghi Leila

Abstract excerpt

BACKGROUND: Severe combined immune deficiencies (SCIDs) are genetically heterogeneous disorders that lead to the absence or malfunction of adaptive immune cells, including T- and B-cells. Pathogenic variants in the RAG2 gene are associated with this disease. METHODS: A couple with consanguineous marriage from the Iranian-Azeri-Turkish ethnic group was referred to the genetic lab. Two children of this family died...

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PMID: 37573280
DOI: 10.1007/s11033-023-08731-8

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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