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- Title
Autosomal Recessive IL-12p40 Deficiency due to a Mutation in the IL12B Gene: Report of a Brazilian Patient with Lymph Node Mycobacterial Infection.
- Authors
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
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 after ocular symptoms. A positive history of inborn error of immunity was present: BCG reaction, skin abscess, and recurrent oral candidiasis. Abnormal measurements of cytokine levels, IL-12p40 and interferon-gamma (IFN-γ), lead to the diagnosis of MSMD. Genetic analysis showed a mutation in exon 7 of the IL12B gene. Currently, the patient is alive under prophylactic antibiotics. Conclusion: We report a rare case of IL-12p40 deficiency in a Latin American patient. Medical history was crucial for immune defect suspicion, as confirmed by precision diagnostic medicine tools.
- Subjects
BRAZIL; LYMPHATIC disease diagnosis; DIAGNOSIS of deficiency diseases; GENETICS of disease susceptibility; MYCOBACTERIAL disease diagnosis; LYMPH nodes; MYCOBACTERIAL diseases; CONSANGUINITY; IMMUNOLOGICAL deficiency syndromes; OCULAR manifestations of general diseases; INTERFERONS; DEFICIENCY diseases; GENETIC mutation; CYTOKINES; ANTIBIOTIC prophylaxis; INTERLEUKINS; LYMPHATIC diseases; BIOMARKERS; GENETIC testing
- Publication
Pediatric Allergy, Immunology & Pulmonology, 2024, Vol 37, Issue 1, p33
- ISSN
2151-321X
- Publication type
Article
- DOI
10.1089/ped.2022.0206