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Review Open access Sep 2026

Pediatric DOCK8 Deficiency Beyond Infections and Atopy: An Immunoactinopathy with Immune Dysregulation and Multisystem Involvement

Highlights What are the main findings? This tertiary-center cohort supports viewing pediatric DOCK8 deficiency as an actin cytoskeleton-related IEI with overlapping infectious, allergic, immune-dysregulatory, and systemic manifestations. Beyond eczema and recurrent infections, the cohort included cytopenias, autoimmuni...

Figen Çelebi Çelik, N. Yüksel, Ömer Akçal et al. · 0 citations
Open access Sep 2026

Diagnostic utility of targeted flow cytometry in genetically confirmed inborn errors of immunity: a 20-year single-center experience

Inborn errors of immunity (IEIs) are a heterogeneous group of genetic disorders in which timely diagnosis is essential for appropriate treatment and improved clinical outcomes. Although next-generation sequencing provides definitive molecular confirmation, it is often time-consuming, costly, and may not identify al...

Özgen Soyöz, Figen Çelebi Çelik, M. Kaya et al. · 0 citations

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