An Immune Defect Causing Dominant Chronic Mucocutaneous Candidiasis and Thyroid Disease Maps to Chromosome 2p in a Single Family T. Prescott Atkinson,

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An Immune Defect Causing Dominant Chronic Mucocutaneous Candidiasis and Thyroid Disease Maps to Chromosome 2p in a Single Family T. Prescott Atkinson, Alejandro A. Schäffer, Bodo Grimbacher, Harry W. Schroeder, Cristina Woellner, Christa S. Zerbe, Jennifer M. Puck The American Journal of Human Genetics Volume 69, Issue 4, Pages 791-803 (October 2001) DOI: 10.1086/323611 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 1 Partial pedigree segregating CMC (symbols with right half blackened) and thyroid disease (symbols with left half blackened), showing subjects contributing DNA for both phases of analysis (black dots above symbols) or for fine mapping only (white dots above symbols). Individuals for whom CMC was unknown are denoted by symbols enclosed within square brackets. Generation V (not shown) contained four children who were too young for phenotype assignment but whose DNA was genotyped. There was anecdotal evidence that one or more spouses of III-5 were related to individuals in generation II, but we were unable to confirm the relationship(s). Therefore, the father of twins IV-2 and IV-3, the father of IV-4, and the father of IV-5 were designated as unaffected, ungenotyped men with a low likelihood of carrying the disease allele. The American Journal of Human Genetics 2001 69, 791-803DOI: (10.1086/323611) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 2 Candida infection of the skin and nails in subjects IV-7 (left) and III-8 (right) The American Journal of Human Genetics 2001 69, 791-803DOI: (10.1086/323611) Copyright © 2001 The American Society of Human Genetics Terms and Conditions