Article
Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome.
The Journal of pediatrics - 1 May 2025
Shapiro Adam J, Wu Eveline Y, Morris-Rosendahl Deborah J, Olivier Kenneth N, Dell Sharon D, Sagel Scott D, Dutmer Cullen M, Mosquera Ricardo A, Rose Markus, O'Connor Michael G, Ma Chi A, Uzel Gulbu, Vece Timothy J, Zariwala Maimoona A, Knowles Michael R, Leigh Margaret W, Davis Stephanie D, Ferkol Thomas W
Abstract excerpt
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...
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