ArticleCase reports in immunology2021
Novel ZAP-70-Related Immunodeficiency Presenting with Epstein-Barr Virus Lymphoproliferative Disorder and Hemophagocytic Lymphohistiocytosis.
Article in Case reports in immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 2 citations in OpenAlex.
- [A case of hepatitis-associated aplastic anemia complicated by hemophagocytic lymphohistiocytosis and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- Regulating the discriminatory response to antigen by T-cell receptor.Bioscience reports · 2022Review
- Full-Length Transcriptome: A Reliable Alternative for Single-Cell RNA-Seq Analysis in the Spleen of Teleost Without Reference Genome.Frontiers in immunology · 2021Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Zeta-chain-associated protein kinase 70 (ZAP-70) plays an integral role in the T-cell antigenic receptor complex. A deficiency of this kinase leads to a phenotype of severe combined immunodeficiency, while hypomorphic mutations of the kinase lead to more mild immunodeficiency phenotypes. We present a case of a 21-year-old patient with lymphadenopathy who was found to have Epstein-Barr virus (EBV) lymphoproliferative disease (LPD) and the development of hemophagocytic lymphohistiocytosis (HLH). On further workup, the patient was ultimately found to have a homozygous intrionic mutation in ZAP-70. This is a novel ZAP-70 mutation (c.1623 + 5G > A) associated with combined immunodeficiency and an EBV-positive LPD. A primary immunodeficiency is important to consider in a young, otherwise healthy patient presenting with an EBV-positive LPD.
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Registered trials
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