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Omenn syndrome caused by a novel homozygous mutation in recombination activating gene 1.

Immunobiology - 1 May 2021

Benhsaien Ibtihal, Essadssi Soukaina, Elkhattabi Lamiae, Bakhchane Amina, Abdelghaffar Houria, Bousfiha Ahmed Aziz, Badou Abdallah, Barakat Abdelhamid

Abstract excerpt

Omenn syndrome (OS) is a type of severe combined immunodeficiency (SCID) that is distinguished by, lymphadenopathy, hepatosplenomegaly, erythroderma, alopecia with normal to elevated T-cell counts, eosinophilia, and elevated serum IgE levels. Recombination activation gene (RAG) 1 or RAG2 mutations that result in partial V(D)J recombination activity are known to be the main cause of OS. Other genes (DCLRE1C, LIG4,...

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Identifiers

PMID: 33964732
DOI: 10.1016/j.imbio.2021.152090

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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