Early diagnosis of partial interferon-γ receptor 1 deficiency prevents the development of Bacille de Calmette et Guérin osteomyelitis.
Clin Immunol
; 235: 108933, 2022 02.
Article
en En
| MEDLINE
| ID: mdl-35074548
ABSTRACT
We encountered two patients with partial interferon γ receptor 1 (IFN-γR1) deficiency in whom early diagnosis enhanced disease management. Patient 1 was a 44-year-old woman with enlarged lymph nodes diagnosed in a pre-pregnancy checkup, and pathological examination revealed a Mycobacterium avium infection. Based on her history of unknown multiple osteomyelitis during early childhood, mendelian susceptibility to mycobacterial disease was suspected. Genetic analysis revealed a novel heterozygous variant in IFNGR1. Genetic counseling was administered to the patient and her husband before they had their baby. Patient 2 was a 4-month-old boy whose father was previously diagnosed with autosomal dominant IFN-γR1 deficiency owing to Bacille de Calmette et Guérin (BCG) osteomyelitis. Genetic analysis showed that he had the same INFGR1 variant. He avoided BCG vaccination and has been disease-free since then. Early diagnosis is considered to be useful for genetic counseling and essential for preventing BCG osteomyelitis.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Osteomielitis
/
Vacuna BCG
/
Receptores de Interferón
Tipo de estudio:
Diagnostic_studies
/
Screening_studies
Límite:
Adult
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Clin Immunol
Asunto de la revista:
ALERGIA E IMUNOLOGIA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Japón