CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

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Synonyms: CAIN

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Advocacy Organizations

Ukrainian Association of Pediatric Immunology

Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.

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Clinical Trials

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