Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect

Ingrid P. Vogelaar, Marjolijn J L Ligtenberg, Rachel S. van der Post, Richarda M. de Voer, C. Marleen Kets, Trees J G Jansen, Liesbeth Jacobs, Gerty Schreibelt, I. Jolanda M de Vries, Mihai G. Netea, Nicoline Hoogerbrugge*, Jan Lubinski, Anna Jakubowska, Urszula Teodorczyk, Hans K. Schackert, Cora M. Aalfs, Encarna B. Gómez García, Guglielmina N. Ranzani, Valeria Molinaro, Liselotte P. van HestFrederik J. Hes, Elke Holinski-Feder, Maurizio Genuardi, Margreet G E M Ausems, Rolf H. Sijmons, Anja Wagner, Lizet E. van der Kolk, Hugo Pinheiro, Carla Oliveira, Inga Bjørnevoll, Hildegunn Høberg Vetti, J. Han J M Van Krieken

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Gastric cancer is caused by both genetic and environmental factors. A woman who suffered from recurrent candidiasis throughout her life developed diffuse-type gastric cancer at the age of 23 years. Using whole-exome sequencing we identified a germline homozygous missense variant in MYD88. Immunological assays on peripheral blood mononuclear cells revealed an impaired immune response upon stimulation with Candida albicans, characterized by a defective production of the cytokine interleukin-17. Our data suggest that a genetic defect in MYD88 results in an impaired immune response and may increase gastric cancer risk.

Original languageEnglish
Pages (from-to)289-296
Number of pages8
JournalFamilial Cancer
Volume15
Issue number2
DOIs
Publication statusPublished - 1 Apr 2016

Keywords

  • Candidaalbicans
  • Gastric cancer
  • Interleukin-17
  • MYD88
  • Th17 response

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