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Article

Omenn syndrome with mutation in RAG1 gene.

Indian journal of pediatrics - 1 Sept 2008

Jaouad I Cherkaoui, Ouldim K, Ali Ou Alla S, Kriouile Y, Villa A, Sefiani A

Abstract excerpt

Omenn syndrome is a form of severe combined immunodeficiency associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. Inherited hypomorphic mutations in the recombination activating genes 1 and 2 (RAG1 and RAG2) and in ARTEMIS genes and more recently defects in IL7RA, and RMRP genes have been described to be responsible of this peculiar immunodeficiency. The authors report here a Moroccan...

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Source

Identifiers

PMID: 19011808
DOI: 10.1007/s12098-008-0197-0

Genes

RAG1
RAG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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Omenn syndrome with mutation in RAG1 gene.PMID 19011808Read ↗

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Omenn syndrome in an infant with IL7RA gene mutation.Semantic proximity Read ↗

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Omenn syndrome: a disorder of Rag1 and Rag2 genes.Semantic proximity Read ↗

Immunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene.Semantic proximity Read ↗

Whole-exome sequencing identified a homozygous novel RAG1 mutation in a child with omenn syndrome.Semantic proximity Read ↗

Omenn syndrome does not live by V(D)J recombination alone.Semantic proximity Read ↗

[Analysis of genetic mutations and pathogenesis for two children with Omenn syndrome].Semantic proximity Read ↗

Diagnosing Omenn syndrome.Semantic proximity Read ↗

Omenn syndrome in the context of other B cell-negative severe combined immunodeficiencies.Semantic proximity Read ↗

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