Autosomal Recessive IL-12p40 Deficiency due to a Mutation in the IL12B Gene: Report of a Brazilian Patient with Lymph Node Mycobacterial Infection.
Pediatr Allergy Immunol Pulmonol
; 37(1): 33-36, 2024 Mar.
Article
em En
| MEDLINE
| ID: mdl-38484269
ABSTRACT
Background:
Autosomal recessive interleukin (IL)-12p40 deficiency is a genetic etiology of Mendelian susceptibility to mycobacterial disease (MSMD). It has been described in â¼50 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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Subunidade p40 da Interleucina-12
/
Infecções por Mycobacterium
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article