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Article

Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine).

Journal of clinical immunology - 1 Jan 2016

Sharapova Svetlana O, Guryanova Irina E, Pashchenko Olga E, Kondratenko Irina V, Kostyuchenko Larisa V, Rodina Yulia A, Varlamova Tatjana V, Bondarenko Anastasiia V, Chernyshova Liudmyla I, Gyseva Marina N, Belevtsev Mikhail V, Minakovskaya Nina V, Aleinikova Olga V

Abstract excerpt

BACKGROUND: Omenn syndrome [Mendelian Inheritance (OMIM 603554)] is a genetic disease of the immune system, characterized by the presence of fatal generalized severe erythroderma, lymphoadenopathy, eosinophilia and profound immunodeficiency. OBJECTIVE: We studied clinical and immunologic presentation of the disease manifestation among East Slavs population with genetically confirmed Omenn syndrome. RESULTS: We...

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Identifiers

PMID: 26596586
DOI: 10.1007/s10875-015-0216-7

Genes

RAG1
RAG2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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