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Article

Mutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations.

Archivum immunologiae et therapiae experimentalis - 1 Dec 2016

Szaflarska Anna, Rutkowska-Zapała Magdalena, Kotula Monika, Gruca Anna, Grabowska Agnieszka, Lenart Marzena, Surman Marta, Trzyna Elżbieta, Mordel Anna, Pituch-Noworolska Anna, Siedlar Maciej

Abstract excerpt

Mutations in RAG1 gene may result in different types of severe combined immunodeficiencies. In this study, we compare clinical symptoms and laboratory findings in four children with identical mutation in RAG1 gene. All of analyzed patients presented symptoms of severe combined immunodeficiencies associated or not with Omenn syndrome (OS) features. In our patients two different types of variants in RAG1 gene were...

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Source

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Identifiers

PMID: 28083621
DOI: 10.1007/s00005-016-0447-1
PMCID: PMC5334423

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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