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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

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

Pediatric allergy, immunology, and pulmonology, 2024-03, Vol.37 (1), p.33-36 [Periódico revisado por pares]

United States

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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
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
Assuntos: Brazil ; Child ; Humans ; Interleukin-12 Subunit p40 - genetics ; Lymph Nodes ; Male ; Mutation ; Mycobacterium Infections - diagnosis ; Mycobacterium Infections - genetics
É parte de: Pediatric allergy, immunology, and pulmonology, 2024-03, Vol.37 (1), p.33-36
Notas: ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
Descrição: 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 infections. 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 gene. Currently, the patient is alive under prophylactic antibiotics. 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.
Editor: United States
Idioma: Inglês

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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

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

United States

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