RESUMO
Here, we describe an adult female with severe fasciitis and skin necrosis who carried a private, predicted deleterious missense mutation in OTULIN in heterozygosity. OTULIN is a cellular regulator of deubiquitination that has been shown to play a key role in intrinsic immunity against staphylococcal α-toxin. The patient was treated with broad-spectrum antibiotics, and multiple surgical explorations were conducted without clinical response. Since autoinflammation was the predominant clinical feature, TNF inhibition was started with a good clinical response. We show that excessive inflammation in OTULIN haploinsufficiency can be effectively treated by TNF inhibition.
Assuntos
Fasciite , Haploinsuficiência , Feminino , Humanos , Inflamação/genética , Necrose , UbiquitinaçãoRESUMO
We report on three patients with infective endocarditis, which differ greatly in clinical manifestations. Infective endocarditis (IE) is defined by, a mostly bacterial, infection of a native or prosthetic heart valve, the endocardial surface or a cardiac device. It is a rare condition, but it's incidence is increasing because of an increased incidence of elderly patients with chronic disease and cardiac devices. IE is heterogeneous in aetiology, clinical manifestations, and course. It can involve almost any organ system. The presentation often remains subtle and varies with nonspecific symptoms ranging from a mild infection to septic shock and multiorgan failure. IE remains a highly mortal disease, since the diagnosis is missed often. A thorough anamnesis and physical examination can be helpful. Blood cultures prior to antibiotics and echocardiography are key diagnostic steps if there's a clinical suspicion of IE.