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Article

Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients.

The Turkish journal of pediatrics - 1 Jan 2016

Tan Çağman, Çağdaş-Ayvaz Deniz, Metin Ayşe, Keskin Özlem, Tezcan İlhan, Sanal Özden

Abstract excerpt

Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by infections with weakly virulent mycobacteria (BCG and environmental mycobacteria), M. tuberculosis, Salmonella, candida and some other intracellular microorganisms. Nine different genetic defects have been defined to cause MSMD and IL-12Rβ1 deficiency is the most common form. We present here the clinical and genetic features of 18...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28276206
DOI: 10.24953/turkjped.2016.04.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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