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Lymphocyte disturbance and functional assessment of the [Asp521Asn] ZAP70 mutation.

Clinical immunology (Orlando, Fla.) - 1 Feb 2023

Lin Yung-Feng, Lee Wen-I, Ho Ching-Huang, Chen Shih-Hsiang, Hsu Mei-Hsin, Wu Ren-Chin, Lee Wan-Fang, Jaing Tang-Her, Huang Jing-Long, Tsai Shih-Feng

Abstract excerpt

Activated zeta-chain-associated protein kinase 70 (ZAP70) phosphorylates the TCRαβ:CD3:zeta complex to diversify and amplify TCR signaling. Patients with ZAP70 mutations can present with phenotypes of immune dysregulation as well as infection. We identified the first Taiwanese boy with the [Asp521Asn] ZAP70 mutation who presented with recurrent pneumonia, inflammatory bowel disease-like diarrhea, transient...

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PMID: 36669607
DOI: 10.1016/j.clim.2023.109236

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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