IL-10 Receptor Defects
- Inheritance: Autosomal recessive
- Genes: IL-10RA and IL-10RB
- Proteins: IL-10RA and IL-10RB
- Tests: IL-10 Receptor Gene Sequencing (IL10RA/IL10RB), IL-10 Receptor Function Screen by Flow
Key Clinical and Laboratory Features
- Common clinical features: Severe, early-onset, fistulating inflammatory colitis that is often resistant to therapy. Follicular dermatitis/folliculitis.
- Other clinical features: Lymphoma (typically B cell), gingivitis
- Physical exam: Severe inflammatory colitis observed by endoscopy. Proctitis is common.
- Common laboratory features: Elevated inflammatory markers, leukocytosis