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Clinical practice guideline for activated phosphatidyl inositol 3-kinase-delta syndrome in Japan

13 May 2023

Abstract excerpt

Activated phosphatidyl inositol 3-kinase-delta syndrome (APDS) due to gain-of-function variant in the class IA PI3K catalytic subunit p110δ (responsible gene: PIK3CD) was described in 2013. The disease is characterized by recurrent airway infections and bronchiectasis. It is associated with hyper-IgM syndrome due to the defect of immunoglobulin class switch recombination and decreased CD27-positive memory B...

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Identifiers

PMID: 37178059
DOI: 10.1080/25785826.2023.2210366

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