Functional validation of <i>PIK3R1</i> variant causing activated phosphoinositide 3-kinase-δ syndrome 2 with hypogammaglobulinemia and bronchiectasis
Authors report a patient with recurrent respiratory infections and bronchiectasis due to an atypical splice-site PIK3R1 variant causing APDS2. Functional studies confirmed PI3Kδ hyperactivation.
Authors
- Bradly M. Bauman (ORCID: https://orcid.org/0000-0002-4471-0966)
- Jordan K. Abbott (ORCID: https://orcid.org/0000-0001-6334-5266)
- C. Lucas (ORCID: https://orcid.org/0000-0002-5754-0820)
- Jason Catanzaro (ORCID: https://orcid.org/0000-0003-2630-8882)
- Cullen M. Dutmer (ORCID: https://orcid.org/0000-0001-9806-4739)
- Marat Kribis (ORCID: https://orcid.org/0009-0005-5437-3456)
Institutions
- Kaiser Permanente (US)
- Emory University (US)
- Yale University (US)
- University of Colorado Denver (US)
Publication Details
- Journal
- Journal of Human Immunity
- Published
- 2025-07-25
- DOI
- https://doi.org/10.70962/jhi.20250085
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Yale University