Novel ZAP-70-Related Immunodeficiency Presenting with Epstein–Barr Virus Lymphoproliferative Disorder and Hemophagocytic Lymphohistiocytosis
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...
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| Format: | Article |
| Language: | English |
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Wiley
2021-01-01
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| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/2021/6587323 |
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| _version_ | 1832546035458637824 |
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| author | Moriah Forster Timothy Moran Anne Beaven Timothy Voorhees |
| author_facet | Moriah Forster Timothy Moran Anne Beaven Timothy Voorhees |
| author_sort | Moriah Forster |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-02db306d434045f6aa609c748e145eac |
| institution | Kabale University |
| issn | 2090-6609 2090-6617 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Immunology |
| spelling | doaj-art-02db306d434045f6aa609c748e145eac2025-02-03T07:23:59ZengWileyCase Reports in Immunology2090-66092090-66172021-01-01202110.1155/2021/65873236587323Novel ZAP-70-Related Immunodeficiency Presenting with Epstein–Barr Virus Lymphoproliferative Disorder and Hemophagocytic LymphohistiocytosisMoriah Forster0Timothy Moran1Anne Beaven2Timothy Voorhees3Department of Medicine University of North Carolina, 126 MacNider Hall, CB #7005 Chapel Hill, NC 27599, USADivision of Immunology, Department of Pediatrics, University of North Carolina, 030 MacNider Hall, CB #7231 Chapel Hill, NC 27599, USADivision of Hematology, Department of Internal Medicine, Lineberger Comprehensive Cancer Center, University of North Carolina, 170 Manning Drive, CB #7305 Chapel Hill, NC 27599, USADivision of Hematology, Department of Internal Medicine, Lineberger Comprehensive Cancer Center, University of North Carolina, 170 Manning Drive, CB #7305 Chapel Hill, NC 27599, USAZeta-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.http://dx.doi.org/10.1155/2021/6587323 |
| spellingShingle | Moriah Forster Timothy Moran Anne Beaven Timothy Voorhees Novel ZAP-70-Related Immunodeficiency Presenting with Epstein–Barr Virus Lymphoproliferative Disorder and Hemophagocytic Lymphohistiocytosis Case Reports in Immunology |
| title | Novel ZAP-70-Related Immunodeficiency Presenting with Epstein–Barr Virus Lymphoproliferative Disorder and Hemophagocytic Lymphohistiocytosis |
| title_full | Novel ZAP-70-Related Immunodeficiency Presenting with Epstein–Barr Virus Lymphoproliferative Disorder and Hemophagocytic Lymphohistiocytosis |
| title_fullStr | Novel ZAP-70-Related Immunodeficiency Presenting with Epstein–Barr Virus Lymphoproliferative Disorder and Hemophagocytic Lymphohistiocytosis |
| title_full_unstemmed | Novel ZAP-70-Related Immunodeficiency Presenting with Epstein–Barr Virus Lymphoproliferative Disorder and Hemophagocytic Lymphohistiocytosis |
| title_short | Novel ZAP-70-Related Immunodeficiency Presenting with Epstein–Barr Virus Lymphoproliferative Disorder and Hemophagocytic Lymphohistiocytosis |
| title_sort | novel zap 70 related immunodeficiency presenting with epstein barr virus lymphoproliferative disorder and hemophagocytic lymphohistiocytosis |
| url | http://dx.doi.org/10.1155/2021/6587323 |
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