Diffuse large B cell lymphoma in hyper-IgE syndrome due to STAT3 mutation

J Clin Immunol. 2010 Nov;30(6):886-93. doi: 10.1007/s10875-010-9452-z. Epub 2010 Sep 22.

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Child
  • Chromosome Disorders
  • Humans
  • Job Syndrome / complications
  • Job Syndrome / genetics*
  • Job Syndrome / immunology
  • Job Syndrome / physiopathology
  • Lymphoma, B-Cell / etiology
  • Lymphoma, B-Cell / genetics*
  • Lymphoma, B-Cell / immunology
  • Lymphoma, B-Cell / physiopathology
  • Male
  • Middle Aged
  • Mutation / genetics
  • STAT3 Transcription Factor / genetics*

Substances

  • STAT3 Transcription Factor