Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect
Academic Article
Publication Date:
2016
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.
Iris type:
1.1 Articolo in rivista
Keywords:
Candidaalbicans; Gastric cancer; Interleukin-17; MYD88; Th17 response; Adult; Candida albicans; Candidiasis; Female; Helicobacter Infections; Homozygote; Humans; Interleukin-17; Myeloid Differentiation Factor 88; Stomach Neoplasms; Genetics; Oncology; Genetics (clinical); Cancer Research
List of contributors:
Vogelaar, Ingrid P.; Ligtenberg, Marjolijn J. L.; van der Post, Rachel S.; de Voer, Richarda M.; Kets, C. Marleen; Jansen, Trees J. G.; Jacobs, Liesbeth; Schreibelt, Gerty; de Vries, I. Jolanda M.; Netea, Mihai G.; Hoogerbrugge, Nicoline; Lubinski, Jan; Jakubowska, Anna; Teodorczyk, Urszula; Schackert, Hans K.; Aalfs, Cora M.; Gómez GarcÃa, Encarna B.; Ranzani, Guglielmina N.; Molinaro, Valeria; van Hest, Liselotte P.; Hes, Frederik J.; Holinski-Feder, Elke; Genuardi, Maurizio; Ausems, Margreet G. E. M.; Sijmons, Rolf H.; Wagner, Anja; van der Kolk, Lizet E.; Pinheiro, Hugo; Oliveira, Carla; Bjã¸rnevoll, Inga; Høberg Vetti, Hildegunn; Han, J.; van Krieken, J. M.
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