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Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.

Immunologic research - 1 Aug 2024

Aykut Ayca, Durmaz Asude, Karaca Neslihan, Gulez Nesrin, Genel Ferah, Celmeli Fatih, Cogurlu M Tuba, Akcan Mediha, Cicek Dilek, Cipe Funda Erol, Kiykim Ayca, Yıldıran Alisan, Unluhizarci Kursad, Kilic Sara Sebnem, Aksu Guzide, Ardeniz Omur, Kutukculer Necil

Abstract excerpt

Human Inborn Errors of Immunity (IEIs) encompass a clinically and genetically heterogeneous group of disorders, ranging from mild cases to severe, life-threatening types. Among these, Primary Immune Regulatory Disorders (PIRDs) constitute a subset of IEIs characterized by diverse clinical phenotypes, prominently featuring severe atopy, autoimmunity, lymphoproliferation, hyperinflammation, autoinflammation, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38644452
DOI: 10.1007/s12026-024-09477-6
PMCID: PMC11347454

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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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