E-viri
Recenzirano
-
Bravo‐Queipo‐de‐Llano, Blanca; Bonet, Daniel; Rosal, Teresa; Cámara, Carmen; Ruiz de Valbuena, Marta; Pérez, Ana; Grasa, Carlos D.; Méndez‐Echevarría, Ana
Pediatric pulmonology, February 2023, 2023-Feb, 2023-02-00, 20230201, Letnik: 58, Številka: 2Journal Article
Autosomal dominant hyper IgE syndrome (AD‐HIES) is a primary immunodeficiency caused by loss‐of‐function (LOF) mutations in the Signal Transducer and Activator of Transcription 3 (STAT3) gene. In these patients, performing a correct differential diagnosis of pulmonary infections is difficult and challenging, as they usually have atypical presentations. However, establishing a correct diagnostic and therapeutic approach is essential, as pulmonary complications are responsible for high morbidity and mortality rates in these patients. We report the case of a teenage girl with AD‐HIES and respiratory symptoms and fever in whom performing a correct differential diagnosis was challenging.
