Functional validation of PIK3R1 variant causing activated phosphoinositide 3-kinase-δ syndrome 2 with hypogammaglobulinemia and bronchiectasis

Marat Kribis; Bradly M. Bauman; Cullen M. Dutmer; Jordan K. Abbott; Jason Catanzaro; C. Lucas

doi:10.70962/jhi.20250085

July 25, 2025Open Access

Functional validation of PIK3R1 variant causing activated phosphoinositide 3-kinase-δ syndrome 2 with hypogammaglobulinemia and bronchiectasis

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Key Points

The results confirm PI3Kδ hyperactivation's crucial role in activated phosphoinositide 3-kinase-δ syndrome.
The patient exhibited recurrent respiratory infections alongside bronchiectasis due to a PIK3R1 variant.
Functional studies validated the impact of the identified splice-site PIK3R1 variant on immune response.
The findings suggest that certain genetic variants can profoundly affect immunological health.

Implication

Observational analysis confirmed PI3Kδ hyperactivation in a patient with bronchiectasis and hypogammaglobulinemia, indicating severe immune dysfunction.

Abstract

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.

Discussion

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Cite This Study

Kribis et al. (2025) studied this question.

synapsesocial.com/papers/68a36a480a429f797332eaf2 https://doi.org/10.70962/jhi.20250085

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Functional validation of PIK3R1 variant causing activated phosphoinositide 3-kinase-δ syndrome 2 with hypogammaglobulinemia and bronchiectasis

Key Points

Implication

Abstract

Discussion

Cite This Study

Functional validation of PIK3R1 variant causing activated phosphoinositide 3-kinase-δ syndrome 2 with hypogammaglobulinemia and bronchiectasis

Key Points

Implication

Abstract

Discussion

Cite This Study

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