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Case Reports
. 2025 May:280:114499.
doi: 10.1016/j.jpeds.2025.114499. Epub 2025 Feb 6.

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

Adam J Shapiro  1 , Eveline Y Wu  2 , Deborah J Morris-Rosendahl  3 , Kenneth N Olivier  4 , Sharon D Dell  5 , Scott D Sagel  6 , Cullen M Dutmer  6 , Ricardo A Mosquera  7 , Markus Rose  8 , Michael G O'Connor  9 , Chi A Ma  10 , Gulbu Uzel  10 , Timothy J Vece  2 , Maimoona A Zariwala  11 , Michael R Knowles  12 , Margaret W Leigh  2 , Stephanie D Davis  2 , Thomas W Ferkol  2
Affiliations
Case Reports

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

Adam J Shapiro et al. J Pediatr. 2025 May.

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.

Keywords: APDS1; PIK3CD; activated PI3K delta syndrome; nasal nitric oxide; primary ciliary dyskinesia.

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Conflict of interest statement

Declaration of Competing Interest Funding support for research was provided to A.S., K.O., S.De, S.S., T.V, M.K, M.Z., S.Da., and T.F, by the US National Institutes of Health (NIH)/ORDR/NCATS/NHLBI grant U54HL096458; to M.K. and M.Z. by US NIH/NHLBI grant R01HL071798; and to S.S. by the US NIH/NCATS Colorado CTSA Grant UM1 TR004399. The Genetic Disorders of Mucociliary Clearance Consortium (U54HL096458) is part of the National Center for Advancing Translational Sciences (NCATS) Rare Diseases Clinical Research Network (RDCRN) and supported by the RDCRN Data Management and Coordinating Center (DMCC) (U2CTR002818). RDCRN is an initiative of the Office of Rare Diseases Research (ORDR), funded through a collaboration between NCATS and National Heart, Lung, and Blood Institute (NHLBI). The UNC Marsico Lung Institute Tissue Procurement and Cell Culture Core is supported by Cystic Fibrosis FoundationBOUCHE19R0 and NIHP30-DK065988 grants. The Yale Center for Mendelian Genomics (UM1HG006504) is funded by the National Human Genome Research Institute. Whole-exome sequencing was possible at Yale Center for Mendelian Genomics through the support by the US NIH/NHLBI grant X01HL115246-01 to M.K. and M.Z. (UNC). The GSP Coordinating Center (U24 HG008956) contributed to cross-program scientific initiatives and provided logistical and general study coordination. E.W. receives consulting and advisory board fees from Pharming Healthcare, Inc. The authors have no conflicts of interest to declare.

References

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