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Autosomal Recessive IL-12p40 Deficiency due to a Mutation in the IL12B Gene: Report of a Brazilian Patient with Lymph Node Mycobacterial Infection.

Pediatric allergy, immunology, and pulmonology - 1 Mar 2024

Melo Karina Mescouto de, Tavares Fabíola Scancetti, Antunes Thales Silva, Condino-Neto Antonio, Silva Segundo Gesmar Rodrigues, Macedo Antônio Carlos Tanajura de, Ferreira Alexandre Paz, Valente Cláudia França Cavalcante

Abstract excerpt

Background: Autosomal recessive interleukin (IL)-12p40 deficiency is a genetic etiology of Mendelian susceptibility to mycobacterial disease (MSMD). It has been described in ∼50 patients, usually with onset at childhood with Bacille Calmette-Guérin (BCG) and Salmonella infections. Case Presentation: A male patient born to consanguineous parents was diagnosed with presumed lymph node MSMD at the age of 13 years...

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PMID: 38484269
DOI: 10.1089/ped.2022.0206

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