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Diffuse Large B Cell Lymphoma in Hyper-IgE Syndrome Due To STAT3 Mutation

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Abstract

The Job or hyper-immunoglobulinemia E syndrome is a primary immunodeficiency that is usually inherited in an autosomal dominant fashion. With the discovery of mutations in the STAT3 gene in the majority of autosomal dominant cases, it is now possible to make a molecular diagnosis of hyper-IgE syndrome. Both primary and secondary immunodeficiencies, including hyper-IgE syndrome, may predispose for malignancies, especially lymphomas, mainly mature B cell lymphomas, and classical Hodgkin lymphoma. Here, we report of a 48-year-old male with hyper-IgE syndrome who developed a primary parotid gland diffuse large B cell lymphoma. Analysis for STAT3 mutations demonstrated that the causal mutation of hyper-IgE syndrome, R382Q, arose de novo in the patient and it was transmitted to three of his five children, all three of whom are clinically affected. We review the literature regarding lymphoma in hyper-IgE syndrome and the possible etiologic relationship with STAT3 mutations.

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The authors have no conflicts of interests to declare.

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Authors and Affiliations

  1. Department of Pathology, University of Utah School of Medicine, 50 North Medical Drive, Salt Lake City, UT, 84132, USA

    Attila Kumánovics, Sherrie L. Perkins, Nancy H. Augustine & Harry R. Hill

  2. Department of Medicine, University of Utah School of Medicine, 50 North Medical Drive, Salt Lake City, UT, 84132, USA

    Heather Gilbert & Harry R. Hill

  3. LDS Hospital and Intermountain Central Laboratory, Salt Lake City, UT, USA

    Melissa H. Cessna

  4. Department of Pediatrics, University of Utah School of Medicine, 50 North Medical Drive, Salt Lake City, UT, 84132, USA

    Harry R. Hill

  5. ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA

    Sherrie L. Perkins, Nancy H. Augustine & Harry R. Hill

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  1. Attila Kumánovics
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  2. Sherrie L. Perkins
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Correspondence to Harry R. Hill.

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Kumánovics, A., Perkins, S.L., Gilbert, H. et al. Diffuse Large B Cell Lymphoma in Hyper-IgE Syndrome Due To STAT3 Mutation. J Clin Immunol 30, 886–893 (2010). https://doi.org/10.1007/s10875-010-9452-z

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  • DOI: https://doi.org/10.1007/s10875-010-9452-z

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