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March 1, 2024Pediatric Allergy Immunology and Pulmonology

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

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

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Abstract

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

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Cite This Study

Melo et al. (2024) studied this question.

synapsesocial.com/papers/68e7691fb6db6435876de8dd https://doi.org/10.1089/ped.2022.0206

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1IL12RB1 Deficiency Appearing in North America: Expanding the Clinical PhenotypesOriginal Research · 2025
2<i>IL12RB1</i> deficiency appearing in North America: expanding the clinical phenotypes2025
3Generalized Lymphadenopathy due to Disseminated Non-Typhoidal Salmonella Infection in a 3–Year–old: Unmasking IL-12RB1-Deficient MSMD – A Rare Case Report.Case Report · 2026
4Recurrent Visceral Leishmaniasis in a Case with Interleukin-12 Receptor Beta-1 Deficiency2024
5Adult Onset of MSMD Caused by IL-12Rβ1 Variants: Report of a Young Woman with NTM Infection Lacking Bacille Calmette–Guérin (BCG)-induced DiseasesOriginal Research · 2026

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Successful Allogeneic Hematopoietic Cell Transplantation in Two Patients with IL-12Rβ1 Deficiency2026
Henoch-Schoenlein purpura (HSP) like lesions in <i>IL12RB1</i> and <i>IL12B</i> defects - A multi-centric experience from India2026
Impairment of Mycobacterial Immunity in Human Interleukin-12 Receptor Deficiency1998

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