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
in 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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Interleukin-12 Subunit p40
/
Mycobacterium Infections
Limits:
Child
/
Humans
/
Male
Country/Region as subject:
America do sul
/
Brasil
Language:
En
Journal:
Pediatr Allergy Immunol Pulmonol
/
Pediatr. allergy immunol. pulmonol. (Online)
/
Pediatric allergy, immunology, and pulmonology (Online)
Year:
2024
Document type:
Article
Affiliation country:
Brazil
Country of publication:
United States