has material basis in gain of function germline mutation in CEBPE autoinflammatory syndrome CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome https://www.malacards.org/card/cebpe_associated_autoinflammation_immunodeficiency_neutrophil_dysfunction_syndrome GARD:0022273 CAIN MONDO:0035437 Orphanet:566067 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 MEDGEN:1799987 ICD10CM:D89.8