Autosomal Recessive IL-12p40 Deficiency due to a Mutation in the IL12B Gene: Report of a Brazilian Patient with Lymph Node Mycobacterial Infection.
| Autor: | 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 |
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| Předmět: |
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 |
| Zdroj: | Pediatric Allergy, Immunology & Pulmonology; Mar2024, Vol. 37 Issue 1, p33-36, 4p |
| Abstrakt: | 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. [ABSTRACT FROM AUTHOR] |
| Databáze: | Complementary Index |
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