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Article

Clinical Manifestations and Outcomes of Activated Phosphoinositide 3-Kinase δ Syndrome from the USIDNET Cohort.

The journal of allergy and clinical immunology. In practice - 1 Nov 2021

Oh Jessica, Garabedian Elizabeth, Fuleihan Ramsay, Cunningham-Rundles Charlotte

Abstract excerpt

BACKGROUND: Activated phosphoinositide 3-kinase δ syndrome is a combined primary immunodeficiency characterized by gain-of-function mutations in PIK3CD and PIK3R1. Activated phosphoinositide 3-kinase δ syndrome demonstrates a large range of phenotypes including respiratory and herpesvirus infections, lymphadenopathy, autoimmunity, and developmental delay. OBJECTIVE: To describe clinical phenotypes and disease...

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Identifiers

PMID: 34352450
DOI: 10.1016/j.jaip.2021.07.044
PMCID: PMC8578310

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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