Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome.

• Tác giả: Stephanie D Davis, Sharon D Dell, Cullen M Dutmer, Thomas W Ferkol, Michael R Knowles, Margaret W Leigh, Chi A Ma, Deborah J Morris-Rosendahl, Ricardo A Mosquera, Michael G O'Connor, Kenneth N Olivier, Markus Rose, Scott D Sagel, Adam J Shapiro, Gulbu Uzel, Timothy J Vece, Eveline Y Wu, Maimoona A Zariwala
• Ngôn ngữ: eng
• Ký hiệu phân loại: 623.853 Temperature controls and air conditioning
• Thông tin xuất bản: United States : The Journal of pediatrics , 2025
• Bộ sưu tập: NCBI
• ID: 679667

Tóm tắt

Primary ciliary dyskinesia and activated phosphoinositide 3-kinase delta syndrome type 1 present similarly, with recurrent respiratory infections and reduced nasal nitric oxide levels. When diagnostic confirmation of primary ciliary dyskinesia with genetic testing and/or ciliary electron microscopy is inconclusive, activated phosphoinositide 3-kinase delta syndrome type 1 and other inborn errors of immunity must be investigated.