CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
Findings
No curated finding names CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0035437), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
- Also called
- CAIN