A rare genetic syndrome with a combination of autoinflammation, immunodeficiency and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present with 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. [from
SNOMEDCT_US]