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Article

Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy.

Clinical immunology (Orlando, Fla.) - 1 Jun 2017

Schröder Claudia, Baerlecken Niklas Thomas, Pannicke Ulrich, Dörk Thilo, Witte Torsten, Jacobs Roland, Stoll Matthias, Schwarz Klaus, Grimbacher Bodo, Schmidt Reinhold E, Atschekzei Faranaz

Abstract excerpt

Here we describe novel mutations in recombination activation gene 1 (RAG1) in a compound heterozygous male patient with combined T and B cell immunodeficiency (CID). Clinical manifestations besides antibody deficiency included airway infections, granulomatosis and autoimmune features. He died at the age of 37 due to PML caused by JC virus infection. By targeted next-generation sequencing we detected post mortem...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Immunologic Deficiency Syndromes

Share to Leukoencephalopathy, Progressive Multifocal

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Source

Identifiers

PMID: 28216420
DOI: 10.1016/j.clim.2016.12.013

Genes

RAG1
PML

Variants

rs199474678

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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