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March 1, 2024BMJ Case Reports

ZAP-70 mutation: a case with familial autoimmune haemolytic anaemia and immune deficiency

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Authors

MEMai M Abd ElhamedYWYasser WaliIYIlham Youssry

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Cite This Study

Elhamed et al. (2024) studied this question.

synapsesocial.com/papers/68e76604b6db6435876db897https://doi.org/10.1136/bcr-2023-258835
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Also Consider

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

  1. 1A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-702016 · 102 citations
  2. 2The Experience of a Tertiary Reference Center in Central Anatolia with Children Carrying ZAP-70 Variants, Including Two Novel Variants2026
  3. 3Clinical, immunological, molecular characteristics and outcomes of stem cell transplantation in ZAP70 deficiency: a single-center experience2025
  4. 4First case of primary CNS lymphoma in a patient with severe combined immunodeficiency carrying a novel ZAP70 mutation: a case report2025
  5. 5A disease-associated mutation that weakens ZAP70 autoinhibition enhances responses to weak and self-ligands2021 · 9 citations