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Article

A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors.

Blood - 1 Oct 2004

Fieschi Claire, Bosticardo Marita, de Beaucoudrey Ludovic, Boisson-Dupuis Stéphanie, Feinberg Jacqueline, Santos Orchidée Filipe, Bustamante Jacinta, Levy Jacov, Candotti Fabio, Casanova Jean-Laurent

Abstract excerpt

Complete interleukin-12/interleukin-23 receptor beta1 (IL-12Rbeta1) deficiency is the most frequent known genetic etiology of the syndrome of Mendelian susceptibility to mycobacterial disease. The patients described to date lack IL-12Rbeta1 at the surface of their natural killer (NK) and T cells due to IL12RB1 mutations, which either interrupt the open reading frame or disrupt protein folding. We describe a...

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PMID: 15178580
DOI: 10.1182/blood-2004-02-0584

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STAT4

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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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