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Article

Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.

Lancet (London, England) - 1 Jan 2000

Dorman Susan E, Picard Capucine, Lammas David, Heyne Klaus, van Dissel Jaap T, Baretto Richard, Rosenzweig Sergio D, Newport Melanie, Levin Michael, Roesler Joachim, Kumararatne Dinakantha, Casanova Jean-Laurent, Holland Steven M

Abstract excerpt

BACKGROUND: Interferon gamma receptor 1 (IFNgammaR1) deficiency is a primary immunodeficiency with allelic dominant and recessive mutations characterised clinically by severe infections with mycobacteria. We aimed to compare the clinical features of recessive and dominant IFNgammaR1 deficiencies. METHODS: We obtained data from a large cohort of patients worldwide. We assessed these people by medical histories,...

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Source

Identifiers

PMID: 15589309
DOI: 10.1016/S0140-6736(04)17552-1

Genes

IFNGR1

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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