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Article

Late-onset combined immune deficiency associated to skin granuloma due to heterozygous compound mutations in RAG1 gene in a 14 years old male.

Human immunology - 1 Jan 2013

Sharapova Svetlana O, Migas Alexandr, Guryanova Irina, Aleshkevich Svetlana, Kletski Semen, Durandy Anne, Belevtsev Michael

Abstract excerpt

We report a male with atypical severe combined immunodeficiency caused by heterozygous compound mutations c.256-257del and c.C1331T in RAG1 gene. The patient presents with recurrent bronchopneumonias with obstruction, chronic fibrosing alveolitis, complicated by respiratory failure, pulmonary hypertension and hepatosplenomegaly. He was diagnosed with agammaglobulinemia at the age of 9. His condition was...

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Source

Identifiers

PMID: 23085344
DOI: 10.1016/j.humimm.2012.10.010

Genes

RAG1

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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