Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome.
Where this comes from
- Record sourced from PubMed, PMID 39922272.
- Also identified by DOI 10.1016/j.jpeds.2025.114499 and PMC identifier 12351481.
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Abstract
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.
Medical subject headings
- Ciliary Motility Disorders