CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome (also known as CAIN) is a rare genetic condition that affects the body’s immune system. It is characterized by a combination of autoinflammation, immunodeficiency, neutrophil dysfunction, and a mild bleeding tendency. During episodes, people experience a range of symptoms including high fever, abdominal pain, and widespread inflammation. The condition involves recurring attacks that last for about four to five days and can occur every few weeks.

Common signs of this condition include recurrent high fever and severe abdominal pain during inflammatory attacks. Other symptoms may include abscesses in the nailbed, tongue, under the jaw (submandibular), and in the gluteal region; intra-abdominal granulomas; and skin issues such as pyoderma gangrenosum and buccal ulcerations. Additionally, frequent episodes of purulent paronychia and superficial skin, mucosal, or upper respiratory tract infections have been observed.

This condition is genetic in nature. Its name suggests an association with the CEBPE gene, which plays a role in the immune system, although detailed genetic causes and specific risk factors have not been fully described in the available information.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.