Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

Cinzia Mazza; Fabio Buzi; Federica Ortolani; Alberto Vitali; Lucia D. Notarangelo; Giovanna Weber; Rosa Bacchetta; Annarosa Soresina; Vassilios Lougaris; Nella A. Greggio; Andrea Taddio; Srdjan Pasic; Monique de Vroede; Malgorzata Pac; Sara Sebnem Kilic; Sanal Ozden; Roberto Rusconi; Silvana Martino; Donatella Capalbo; Mariacarolina Salerno; Claudio Pignata; Giorgio Radetti; Giuseppe Maggiore; Alessandro Plebani; Luigi D. Notarangelo; Raffaele Badolato

doi:10.1016/j.clim.2010.12.021

Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

Cinzia Mazza, Fabio Buzi, Federica Ortolani, Alberto Vitali, Lucia D. Notarangelo, Giovanna Weber, Rosa Bacchetta, Annarosa Soresina, Vassilios Lougaris, Nella A. Greggio, Andrea Taddio, Srdjan Pasic, Monique de Vroede, Malgorzata Pac, Sara Sebnem Kilic, Sanal Ozden, Roberto Rusconi, Silvana Martino, Donatella Capalbo, Mariacarolina SalernoClaudio Pignata, Giorgio Radetti, Giuseppe Maggiore, Alessandro Plebani, Luigi D. Notarangelo, Raffaele Badolato

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

Abstract

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive organ-specific autoimmune disorder that is characterized by a variable combination of (i) chronic mucocutaneous candidiasis, (ii) polyendocrinopathy and/or hepatitis and (iii) dystrophy of the dental enamel and nails.We analyzed the AIRE (autoimmune regulator) gene in subjects who presented any symptom that has been associated with APECED, including candidiasis and autoimmune endocrinopathy.We observed that 83.3% of patients presented at least two of the three typical manifestations of APECED, while the remaining 16.7% of patients showed other signs of the disease.Analysis of the genetic diagnosis of these subjects revealed that a considerable delay occurs in the majority of patients between the appearance of symptoms and the diagnosis. Overall, the mean diagnostic delay in our patients was 10.2. years. These results suggest that molecular analysis of AIRE should be performed in patients with relapsing mucocutaneous candidiasis for early identification of APECED.

Original language	English
Pages (from-to)	6-11
Number of pages	6
Journal	Clinical Immunology
Volume	139
Issue number	1
DOIs	https://doi.org/10.1016/j.clim.2010.12.021
Publication status	Published - Apr 2011

Keywords

Autoimmunity
Candidiasis
Endocrinopathy

ASJC Scopus subject areas

Immunology
Immunology and Allergy

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10.1016/j.clim.2010.12.021

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Mazza, C., Buzi, F., Ortolani, F., Vitali, A., Notarangelo, L. D., Weber, G., Bacchetta, R., Soresina, A., Lougaris, V., Greggio, N. A., Taddio, A., Pasic, S., de Vroede, M., Pac, M., Kilic, S. S., Ozden, S., Rusconi, R., Martino, S., Capalbo, D., ... Badolato, R. (2011). Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. Clinical Immunology, 139(1), 6-11. https://doi.org/10.1016/j.clim.2010.12.021

Mazza, C, Buzi, F, Ortolani, F, Vitali, A, Notarangelo, LD, Weber, G, Bacchetta, R, Soresina, A, Lougaris, V, Greggio, NA, Taddio, A, Pasic, S, de Vroede, M, Pac, M, Kilic, SS, Ozden, S, Rusconi, R, Martino, S, Capalbo, D, Salerno, M, Pignata, C, Radetti, G, Maggiore, G, Plebani, A, Notarangelo, LD & Badolato, R 2011, 'Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome', Clinical Immunology, vol. 139, no. 1, pp. 6-11. https://doi.org/10.1016/j.clim.2010.12.021

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title = "Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome",

abstract = "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive organ-specific autoimmune disorder that is characterized by a variable combination of (i) chronic mucocutaneous candidiasis, (ii) polyendocrinopathy and/or hepatitis and (iii) dystrophy of the dental enamel and nails.We analyzed the AIRE (autoimmune regulator) gene in subjects who presented any symptom that has been associated with APECED, including candidiasis and autoimmune endocrinopathy.We observed that 83.3% of patients presented at least two of the three typical manifestations of APECED, while the remaining 16.7% of patients showed other signs of the disease.Analysis of the genetic diagnosis of these subjects revealed that a considerable delay occurs in the majority of patients between the appearance of symptoms and the diagnosis. Overall, the mean diagnostic delay in our patients was 10.2. years. These results suggest that molecular analysis of AIRE should be performed in patients with relapsing mucocutaneous candidiasis for early identification of APECED.",

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AU - Mazza, Cinzia

AU - Buzi, Fabio

AU - Ortolani, Federica

AU - Vitali, Alberto

AU - Notarangelo, Lucia D.

AU - Weber, Giovanna

AU - Bacchetta, Rosa

AU - Soresina, Annarosa

AU - Lougaris, Vassilios

AU - Greggio, Nella A.

AU - Taddio, Andrea

AU - Pasic, Srdjan

AU - de Vroede, Monique

AU - Pac, Malgorzata

AU - Kilic, Sara Sebnem

AU - Ozden, Sanal

AU - Rusconi, Roberto

AU - Martino, Silvana

AU - Capalbo, Donatella

AU - Salerno, Mariacarolina

AU - Pignata, Claudio

AU - Radetti, Giorgio

AU - Maggiore, Giuseppe

AU - Plebani, Alessandro

AU - Notarangelo, Luigi D.

AU - Badolato, Raffaele

PY - 2011/4

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N2 - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive organ-specific autoimmune disorder that is characterized by a variable combination of (i) chronic mucocutaneous candidiasis, (ii) polyendocrinopathy and/or hepatitis and (iii) dystrophy of the dental enamel and nails.We analyzed the AIRE (autoimmune regulator) gene in subjects who presented any symptom that has been associated with APECED, including candidiasis and autoimmune endocrinopathy.We observed that 83.3% of patients presented at least two of the three typical manifestations of APECED, while the remaining 16.7% of patients showed other signs of the disease.Analysis of the genetic diagnosis of these subjects revealed that a considerable delay occurs in the majority of patients between the appearance of symptoms and the diagnosis. Overall, the mean diagnostic delay in our patients was 10.2. years. These results suggest that molecular analysis of AIRE should be performed in patients with relapsing mucocutaneous candidiasis for early identification of APECED.

AB - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive organ-specific autoimmune disorder that is characterized by a variable combination of (i) chronic mucocutaneous candidiasis, (ii) polyendocrinopathy and/or hepatitis and (iii) dystrophy of the dental enamel and nails.We analyzed the AIRE (autoimmune regulator) gene in subjects who presented any symptom that has been associated with APECED, including candidiasis and autoimmune endocrinopathy.We observed that 83.3% of patients presented at least two of the three typical manifestations of APECED, while the remaining 16.7% of patients showed other signs of the disease.Analysis of the genetic diagnosis of these subjects revealed that a considerable delay occurs in the majority of patients between the appearance of symptoms and the diagnosis. Overall, the mean diagnostic delay in our patients was 10.2. years. These results suggest that molecular analysis of AIRE should be performed in patients with relapsing mucocutaneous candidiasis for early identification of APECED.

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Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

Abstract

Keywords

ASJC Scopus subject areas

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