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March 8, 2026Journal of Clinical ImmunologyOpen Access

The Experience of a Tertiary Reference Center in Central Anatolia with Children Carrying ZAP-70 Variants, Including Two Novel Variants

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Authors

SGSerdar GöktaşOSOzlem KALAYCIK SENGULŞEŞerife Erdem

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Overview

Case series identifies novel ZAP-70 variants and demonstrates impaired TCR signaling in patients, suggesting HSCT as a curative option.

Key Points

  • Investigate the clinical and genetic characteristics of children with ZAP-70 deficiency.
  • Case series involving seven patients from Turkey, Syria, and Azerbaijan.
  • Conducted functional analyses on TCR signaling and immune responses.
  • Evaluated clinical phenotypes and treatment outcomes, including HSCT.
  • Identified two novel ZAP70 variants in seven patients with varying immunological profiles.
  • Found impaired TCR-induced proliferation and reduced IL-2 production in affected patients.
  • Illustrated heterogeneity in clinical presentation, with some patients exhibiting severe infections and autoimmune manifestations.

Cite This Study

Göktaş et al. (2026) studied this question.

synapsesocial.com/papers/69acc57d32b0ef16a404fcdbhttps://doi.org/10.1007/s10875-026-01989-0
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1ZAP-70 mutation: a case with familial autoimmune haemolytic anaemia and immune deficiency2024 · 1 citations
  2. 2A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-702016 · 101 citations
  3. 3First case of primary CNS lymphoma in a patient with severe combined immunodeficiency carrying a novel ZAP70 mutation: a case report2025
  4. 4Clinical, immunological, molecular characteristics and outcomes of stem cell transplantation in ZAP70 deficiency: a single-center experience2025
  5. 5A disease-associated mutation that weakens ZAP70 autoinhibition enhances responses to weak and self-ligands2021 · 9 citations