title: Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect.
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.
authors.affiliation: Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
authors.forename: Ingrid P
authors.initials: IP
authors.lastname: Vogelaar
authors.affiliation: Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.|Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands.
authors.forename: Marjolijn J L
authors.initials: MJ
authors.lastname: Ligtenberg
authors.affiliation: Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands.
authors.forename: Rachel S
authors.initials: RS
authors.lastname: van der Post
authors.affiliation: Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
authors.forename: Richarda M
authors.initials: RM
authors.lastname: de Voer
authors.affiliation: Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
authors.forename: C Marleen
authors.initials: CM
authors.lastname: Kets
authors.affiliation: Department of Internal Medicine, Radboud university medical center, Nijmegen, The Netherlands.
authors.forename: Trees J G
authors.initials: TJ
authors.lastname: Jansen
authors.affiliation: Department of Internal Medicine, Radboud university medical center, Nijmegen, The Netherlands.
authors.forename: Liesbeth
authors.initials: L
authors.lastname: Jacobs
authors.affiliation: Department of Tumor Immunology, Radboud university medical center, Nijmegen, The Netherlands.
authors.forename: Gerty
authors.initials: G
authors.lastname: Schreibelt
authors.affiliation: Department of Tumor Immunology, Radboud university medical center, Nijmegen, The Netherlands.|Department of Medical Oncology, Radboud university medical center, Nijmegen, The Netherlands.
authors.forename: I Jolanda M
authors.initials: IJ
authors.lastname: de Vries
authors.affiliation: Department of Internal Medicine, Radboud university medical center, Nijmegen, The Netherlands.
authors.forename: Mihai G
authors.initials: MG
authors.lastname: Netea
authors.affiliation: Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. nicoline.hoogerbrugge@radboudumc.nl.
authors.forename: Nicoline
authors.initials: N
authors.lastname: Hoogerbrugge
mesh_terms: D000328:Adult; D002176:Candida albicans / Q000276:immunology / Q000472:pathogenicity; D002177:Candidiasis / Q000209:etiology* / Q000235:genetics / Q000276:immunology; D005260:Female; D016481:Helicobacter Infections / Q000188:drug therapy; D006720:Homozygote; D006801:Humans; D020381:Interleukin-17 / Q000378:metabolism; D053594:Myeloid Differentiation Factor 88 / Q000235:genetics* / Q000276:immunology; D013274:Stomach Neoplasms / Q000209:etiology* / Q000235:genetics / Q000382:microbiology
chemical_list: D020381:Interleukin-17; C507779:MYD88 protein, human; D053594:Myeloid Differentiation Factor 88
keywords: Candida albicans; Gastric cancer; Interleukin-17; MYD88; Th17 response