Journal of Clinical Immunology

, Volume 30, Issue 6, pp 886–893

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

  • Attila Kumánovics
  • Sherrie L. Perkins
  • Heather Gilbert
  • Melissa H. Cessna
  • Nancy H. Augustine
  • Harry R. Hill
Article

DOI: 10.1007/s10875-010-9452-z

Cite this article as:
Kumánovics, A., Perkins, S.L., Gilbert, H. et al. J Clin Immunol (2010) 30: 886. doi:10.1007/s10875-010-9452-z

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.

Keywords

Immunodeficiencyhyper-IgE syndromeJob syndromelymphomaSTAT3melting analysis

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Attila Kumánovics
    • 1
  • Sherrie L. Perkins
    • 1
    • 5
  • Heather Gilbert
    • 2
  • Melissa H. Cessna
    • 3
  • Nancy H. Augustine
    • 1
    • 5
  • Harry R. Hill
    • 1
    • 2
    • 4
    • 5
  1. 1.Department of PathologyUniversity of Utah School of MedicineSalt Lake CityUSA
  2. 2.Department of MedicineUniversity of Utah School of MedicineSalt Lake CityUSA
  3. 3.LDS Hospital and Intermountain Central LaboratorySalt Lake CityUSA
  4. 4.Department of PediatricsUniversity of Utah School of MedicineSalt Lake CityUSA
  5. 5.ARUP Institute for Clinical and Experimental PathologySalt Lake CityUSA