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

Tijdschriftbijdrage - Tijdschriftartikel

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.

Tijdschrift: Familial Cancer
ISSN: 1389-9600
Issue: 2
Volume: 15
Pagina's: 289-296
Jaar van publicatie:2016
Trefwoorden:Adult, Candida albicans/immunology, Candidiasis/etiology, Female, Helicobacter Infections/drug therapy, Homozygote, Humans, Interleukin-17/metabolism, Myeloid Differentiation Factor 88/genetics, Stomach Neoplasms/etiology