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

Maurizio Genuardi, 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 MolinaroLiselotte P. Van Hest, Frederik J. Hes, Elke Holinski-Feder, 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

Risultato della ricerca: Contributo in rivistaArticolo in rivista

9 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)289-296
Numero di pagine8
RivistaFamilial Cancer
Volume15
DOI
Stato di pubblicazionePubblicato - 2016

Keywords

  • Adult
  • Cancer Research
  • Candida albicans
  • Candidaalbicans
  • Candidiasis
  • Female
  • Gastric cancer
  • Genetics
  • Genetics (clinical)
  • Helicobacter Infections
  • Homozygote
  • Humans
  • Interleukin-17
  • MYD88
  • Myeloid Differentiation Factor 88
  • Oncology
  • Stomach Neoplasms
  • Th17 response

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