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Article

Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis.

The Journal of infectious diseases - 15 Jul 2001

Altare F, Ensser A, Breiman A, Reichenbach J, Baghdadi J E, Fischer A, Emile J F, Gaillard J L, Meinl E, Casanova J L

Abstract excerpt

Two siblings with interleukin-12 receptor beta1 (IL-12Rbeta1) deficiency but different clinical phenotypes were studied. Both are homozygous for an IL12RB1 missense mutation that prevents receptor expression and abolishes cellular responses to IL-12. Transfection of the patients' T cells with wild-type IL12RB1 restored IL-12Rbeta1 expression and function. One patient had the expected phenotype of disseminated...

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Source

Identifiers

PMID: 11424023
DOI: 10.1086/321999

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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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