has material basis in gain of function germline mutation in CEBPE autoinflammatory syndrome CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome https://github.com/monarch-initiative/mondo/issues/10407 https://www.malacards.org/card/cebpe_associated_autoinflammation_immunodeficiency_neutrophil_dysfunction_syndrome GARD:0022273 CAIN MONDO:0035437 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. UMLS:C5568564 This term is scheduled to be merged with MONDO:0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain', based on the fact that the concept of these 2 terms are the same. This ID will therefore be obsoleted and replaced with MONDO:0009842 Orphanet:566067 2026-10-01 MEDGEN:1799987 ICD10CM:D89.8