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Article

Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.

Clinical and experimental immunology - 7 Feb 2024

Karaatmaca Betul, Cagdas Deniz, Esenboga Saliha, Erman Baran, Tan Cagman, Turul Ozgur Tuba, Boztug Kaan, van der Burg Mirjam, Sanal Ozden, Tezcan Ilhan

Abstract excerpt

Recombination activating genes (RAG)1 and RAG2 deficiency leads to combined T/B-cell deficiency with varying clinical presentations. This study aimed to define the clinical/laboratory spectrum of RAG1 and RAG2 deficiency. We retrospectively reviewed the clinical/laboratory data of 35 patients, grouped them as severe combined immunodeficiency (SCID), Omenn syndrome (OS), and delayed-onset combined immunodeficiency...

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Identifiers

PMID: 37724703
DOI: 10.1093/cei/uxad110
PMCID: PMC10847812

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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