Combined immunodeficiency due to RELA haploinsufficiency
ORPHA:596759· ICD-10 D81.8
Definition
A rare non-severe combined immunodeficiency characterized by TNF-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood