A case report highlights a twin diagnosed with a novel pathogenic variant in CYBB leading to X-linked chronic granulomatous disease, initially misdiagnosed as congenital cystic lung disease. This underscores the importance of accurate genetic testing in rare disease diagnosis.
twin with a novel pathogenic variant in cybb induced x linked chronic granulomatous disease a rare case report of misdiagnosis as congenital cystic lung disease
Original title: “A twin with a novel pathogenic variant in CYBB induced X-linked chronic granulomatous disease: a rare case report of misdiagnosis as congenital cystic lung disease.”