A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12-q12.1

M. Mangino; D. C. Salpietro; D. Zuccarello; S. Gangemi; L. Rigoli; M. V. Merlino; S. Briuglia; G. Bisignano; R. Mingarelli; B. Dallapiccola

doi:10.1038/sj.ejhg.5200985

A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12-q12.1

M. Mangino, D. C. Salpietro, D. Zuccarello, S. Gangemi, L. Rigoli, M. V. Merlino, S. Briuglia, G. Bisignano, R. Mingarelli, B. Dallapiccola

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

Abstract

Chronic mucocutaneous candidiases (CMC) are a group of rare disorders where an altered immune response against Candida leads to persistent and/or recurrent infections of the skin, nails, and mucous membranes. We analysed a five-generation Italian family with an isolated form of CMC, affecting nails only, in the presence of low serum concentration of intercellular adhesion molecule I (ICAM-1). We excluded linkage to candidate regions on chromosomes 2p (CMC with thyroid disease), 21q22.3 (APECED), and 19q13 (ICAM-1). We then carried out a enome-wide scan and assigned the CMC locus to a 19cM pericentromeric region on chromosome 11.

Original language	English
Pages (from-to)	433-436
Number of pages	4
Journal	European Journal of Human Genetics
Volume	11
Issue number	6
DOIs	https://doi.org/10.1038/sj.ejhg.5200985
Publication status	Published - Jun 1 2003

Keywords

Candida
Chromosome 11
CMC
Linkage

ASJC Scopus subject areas

Genetics(clinical)

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10.1038/sj.ejhg.5200985

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abstract = "Chronic mucocutaneous candidiases (CMC) are a group of rare disorders where an altered immune response against Candida leads to persistent and/or recurrent infections of the skin, nails, and mucous membranes. We analysed a five-generation Italian family with an isolated form of CMC, affecting nails only, in the presence of low serum concentration of intercellular adhesion molecule I (ICAM-1). We excluded linkage to candidate regions on chromosomes 2p (CMC with thyroid disease), 21q22.3 (APECED), and 19q13 (ICAM-1). We then carried out a enome-wide scan and assigned the CMC locus to a 19cM pericentromeric region on chromosome 11.",

keywords = "Candida, Chromosome 11, CMC, Linkage",

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AU - Mangino, M.

AU - Salpietro, D. C.

AU - Zuccarello, D.

AU - Gangemi, S.

AU - Rigoli, L.

AU - Merlino, M. V.

AU - Briuglia, S.

AU - Bisignano, G.

AU - Mingarelli, R.

AU - Dallapiccola, B.

PY - 2003/6/1

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AB - Chronic mucocutaneous candidiases (CMC) are a group of rare disorders where an altered immune response against Candida leads to persistent and/or recurrent infections of the skin, nails, and mucous membranes. We analysed a five-generation Italian family with an isolated form of CMC, affecting nails only, in the presence of low serum concentration of intercellular adhesion molecule I (ICAM-1). We excluded linkage to candidate regions on chromosomes 2p (CMC with thyroid disease), 21q22.3 (APECED), and 19q13 (ICAM-1). We then carried out a enome-wide scan and assigned the CMC locus to a 19cM pericentromeric region on chromosome 11.

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KW - Chromosome 11

KW - CMC

KW - Linkage

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A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12-q12.1

Abstract

Keywords

ASJC Scopus subject areas

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