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Article

561del4 defines a novel small deletion hotspot in the interferon-gamma receptor 1 chain.

Clinical immunology (Orlando, Fla.) - 1 Jan 2002

Rosenzweig S, Dorman S E, Roesler J, Palacios J, Zelazko M, Holland S M

Abstract excerpt

Patients with a dominant small deletion (818del4, hotspot) in the interferon-gamma receptor 1 (IFNGR1) gene (6q23-q24) and increased susceptibility to mycobacterial infections have been recently reported. We describe a female patient homozygous for a 4-bp deletion in exon 5 of IFNGR1 (561del4) who developed postvaccinal disseminated Bacille Calmette-Guerin infection. She was born to unrelated Argentinean parents,...

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Source

Identifiers

PMID: 11781064
DOI: 10.1006/clim.2001.5135

Genes

IFNGR1

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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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