"We discovered that her immune cells did not react normally on encounter with Candida," Kullberg explained. "Neither she nor her sisters had any other recurrent or severe infections, which underscores that this mutation is very specific, and just affects the susceptibility to mucosal Candida infections, not to Candida bloodstream infections or to other microorganisms. This is an otherwise perfectly healthy young lady."
The mutation was found in the dectin-1 gene.
The second study looked at 36 members of an extended Iranian family, several of whom had a predisposition to yeast infections. Three died during adolescence, two after invasive fungal infections of the brain.
This time, the mutation was found in the CARD9 gene, also involved in the immune system.
"Both studies are talking about the same sort of immunological pathways that are triggered in Candida type of infections," Gregg said.
These findings are noteworthy, said Jeffrey Sands, a professor of biological sciences at Lehigh University in Bethlehem, Pa. "We've been co-evolving with fungi for millions of years, and we have these mechanisms for detecting fungal infections, maybe not wiping them out but preventing them from becoming really serious in most cases," Sands said. "The fact that we can now identify individual genes in which there's a mutation, that's certainly a major advance."
The U.S. Department of Health and Human Services has more on vaginal yeast infections.
SOURCES: Steven Goldstein, M.D., professor, obstetrics and gynecology, New York University Langone Medical Center, New York City; Anthony R. Gregg, M.D., board of directors, American College of Medical Genetics, and director, maternal and fetal medicine, and medical director, genetics, University of South Carolina, Columbia; Bart Jan Kullberg, M.D., professor, medicine, Radboud University Nijmegen, Nijmegen Institute for Infection, Inflammation, and Immunity, and chief, infectious diseases section, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands; Jeffrey Sands, Ph.D., professor and former chair, biological sciences, Lehigh University, Bethlehem, Pa.; Narendra Kumar, Ph.D., assistant professor, pharmaceutical sciences, Texas A&M Health Science Center Irma Lerma Rangel College of Pharmacy, Kingsville; Oct. 29, 2009, New England Journal of Medicine