An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family.

@article{Atkinson2001AnID,
  title={An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family.},
  author={T Prescott Atkinson and Alejandro A. Sch{\"a}ffer and Bodo Grimbacher and Harry W. Schroeder and Cristina Woellner and Christa S. Zerbe and Jennifer M Puck},
  journal={American journal of human genetics},
  year={2001},
  volume={69 4},
  pages={791-803}
}
We describe a large family in which a combination of chronic mucocutaneous candidiasis (fungal infections of the skin, nails, and mucous membranes) and thyroid disease segregate as an autosomal dominant trait with reduced penetrance. The family includes (a) four members with both candidiasis and thyroid disease, (b) five members, including one pair of phenotype-concordant MZ twins, with candidiasis only, and (c) three members with thyroid disease only. A whole-genome scan using DNA samples from… CONTINUE READING

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