Запальні захворювання кишечника, повязані з TRIM22
ORPHA:597201· ICD-10 K52.8· TRIM22-related inflammatory bowel disease
Визначення(English summary)
A rare genetic gastroenterological disease characterized by infantile or childhood onset of severe gastrointestinal inflammation. Patients present with a variable phenotype including fever, diarrhea, failure to thrive, oral ulcers, fistulating perianal disease, strictures, granulomatous colitis, and recurrent bacterial and viral infections.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Neonatal