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Article

Immunodeficiency due to a novel variant in PIK3CD: a case report.

Pediatric rheumatology online journal - 20 Jul 2023

Shashaani Niloofar, Chavoshzadeh Zahra, Ghasemi Leila, Ghotbabadi Shabnam Hajiani, Shiari Sara, Sharafian Samin, Shiari Reza

Abstract excerpt

BACKGROUND: Primary immunodeficiencies are immunological disorders caused by gene mutations involved in immune system development and activation. Recently, activated phosphoinositide 3-kinase delta syndrome (APDS) due to mutations in the phosphoinositide 3-kinase (PI3K), phosphatidylinositol-4, 5-bisphosphate 3-kinase, catalytic subunit delta gene (PIK3CD), and phosphoinositide 3-kinase regulatory subunit 1...

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Identifiers

PMID: 37475052
DOI: 10.1186/s12969-023-00859-y
PMCID: PMC10357603

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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