Novel ZAP-70-Related Immunodeficiency Presenting with Epstein-Barr Virus Lymphoproliferative Disorder and Hemophagocytic Lymphohistiocytosis

Moriah Forster; Timothy Moran; Anne Beaven; Timothy Voorhees

doi:10.1155/2021/6587323

Novel ZAP-70-Related Immunodeficiency Presenting with Epstein-Barr Virus Lymphoproliferative Disorder and Hemophagocytic Lymphohistiocytosis

Case Reports Immunol. 2021 Jun 19:2021:6587323. doi: 10.1155/2021/6587323. eCollection 2021.

Authors

Moriah Forster¹, Timothy Moran², Anne Beaven³, Timothy Voorhees³

Affiliations

¹ Department of Medicine University of North Carolina, 126 MacNider Hall, CB #7005 Chapel Hill, NC 27599, USA.
² Division of Immunology, Department of Pediatrics, University of North Carolina, 030 MacNider Hall, CB #7231 Chapel Hill, NC 27599, USA.
³ Division of Hematology, Department of Internal Medicine, Lineberger Comprehensive Cancer Center, University of North Carolina, 170 Manning Drive, CB #7305 Chapel Hill, NC 27599, USA.

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.

Publication types

Case Reports