Autoimmune polyendocrine syndrome type 1: case report and review of literature

被引：28

作者：

Weiler, Fernanda Guimaraes ^{[1
]}

Dias-da-Silva, Magnus R. ^{[2
]}

Lazaretti-Castro, Marise ^{[1
]}

机构：

[1] Univ Fed Sao Paulo Unifesp EPM, Escola Paulista Med, Div Endocrinol, Bone & Mineral Unit, Sao Paulo, Brazil

[2] Unifesp EPM, Dept Biochem, Sao Paulo, Brazil

来源：

ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA | 2012年 / 56卷 / 01期

关键词：

CANDIDIASIS-ECTODERMAL DYSTROPHY; SYNDROME TYPE-I; CHRONIC MUCOCUTANEOUS CANDIDIASIS; TERM-FOLLOW-UP; POLYGLANDULAR SYNDROME; REGULATOR PROTEIN; ADDISONS-DISEASE; AIRE GENE; ACID DECARBOXYLASE; APECED PATIENTS;

D O I：

10.1590/S0004-27302012000100009

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Autoimmune polyendocrine syndrome type 1 (APECED) is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. The disease is caused by mutations in the autoimmune regulator gene (AIRE), resulting in defective AIRE protein, which is essential for self-tolerance. Clinical manifestations are widely variable. Although the classic triad is composed by mucocutaneous candidiasis, hypoparathyroidism and adrenal failure, many other components may develop. Treatment is based on supplementation of the various deficiencies, and patients require regular follow-up throughout their lifespan. This article describes the case of a patient with the disease, and reviews literature data on the epidemiology, clinical course, immunogenetic aspects, diagnosis and treatment of the syndrome. Arq Bras Endocnnol Metab. 2012;56(1):54-66

引用

页码：54 / 66

页数：13

共 78 条

[1] An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains [J].

Aaltonen, J ;

Bjorses, P ;

Perheentupa, J ;

HorelliKuitunen, N ;

Palotie, A ;

Peltonen, L ;

Lee, YS ;

Francis, F ;

Hennig, S ;

Thiel, C ;

Lehrach, H ;

Yaspo, ML .

NATURE GENETICS, 1997, 17 (04) :399-403

[2] CLINICAL VARIATION OF AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY (APECED) IN A SERIES OF 68 PATIENTS [J].

AHONEN, P ;

MYLLARNIEMI, S ;

SIPILA, I ;

PERHEENTUPA, J .

NEW ENGLAND JOURNAL OF MEDICINE, 1990, 322 (26) :1829-1836

[3] Autoimmune polyendocrine syndrome type 1 and NALP5, parathyroid autoantigen [J].

Alimohammadi, Mohammad ;

Bjorklund, Peyman ;

Hallgren, Asa ;

Pontynen, Nora ;

Szinnai, Gabor ;

Shikama, Noriko ;

Keller, Marcel P. ;

Ekwall, Olov ;

Kinkel, Sarah A. ;

Husebye, Eystein S. ;

Gustafsson, Jan ;

Rorsman, Fredrik ;

Peltonen, Leena ;

Betterle, Corrado ;

Perheentupa, Jaakko ;

Akerstrom, Goran ;

Westin, Gunnar ;

Scott, Hamish S. ;

Hollaender, Georg A. ;

Kampe, Olle .

NEW ENGLAND JOURNAL OF MEDICINE, 2008, 358 (10) :1018-1028

[4] Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen [J].

Alimohammadi, Mohammad ;

Dubois, Noemie ;

Skoldberg, Filip ;

Hallgren, Asa ;

Tardivel, Isabelle ;

Hedstrand, Hakan ;

Haavik, Jan ;

Husebye, Eystein S. ;

Gustafsson, Jan ;

Rorsman, Fredrik ;

Meloni, Antonella ;

Janson, Christer ;

Vialettes, Bernard ;

Kajosaari, Merja ;

Egner, William ;

Sargur, Ravishankar ;

Ponten, Fredrik ;

Amoura, Zahir ;

Grimfeld, Alain ;

De Luca, Filippo ;

Betterle, Corrado ;

Perheentupa, Jaakko ;

Kampe, Olle ;

Carel, Jean-Claude .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (11) :4396-4401

[5] Projection of an immunological self shadow within the thymus by the aire protein [J].

Anderson, MS ;

Venanzi, ES ;

Klein, L ;

Chen, ZB ;

Berzins, SP ;

Turley, SJ ;

von Boehmer, H ;

Bronson, R ;

Dierich, A ;

Benoist, C ;

Mathis, D .

SCIENCE, 2002, 298 (5597) :1395-1401

[6] Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1 [J].

Bensing, Sophie ;

Fetissov, Serguei O. ;

Mulder, Jan ;

Perheentupa, Jaakko ;

Gustafsson, Jan ;

Husebye, Eystein S. ;

Oscarson, Mikael ;

Ekwall, Olov ;

Crock, Patricia A. ;

Hokfelt, Tomas ;

Hulting, Anna-Lena ;

Kampe, Olle .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (03) :949-954

[7] Autoimmune polyglandular syndrome type 1 [J].

Betterle, C ;

Greggio, NA ;

Volpato, M .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1998, 83 (04) :1049-1055

[8] The PHD finger, a nuclear protein-interaction domain [J].

Bienz, M .

TRENDS IN BIOCHEMICAL SCIENCES, 2006, 31 (01) :35-40

[9] Mutations in the AIRE gene:: Effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein [J].

Björses, P ;

Halonen, M ;

Palvimo, JJ ;

Kolmer, M ;

Aaltonen, J ;

Ellonen, P ;

Perheentupa, J ;

Ulmanen, I ;

Peltonen, L .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (02) :378-392

[10] NMR structure of the first PHD finger of autoimmune regulator protein (AIRE1) [J].

Bottomley, MJ ;

Stier, G ;

Pennacchini, D ;

Legube, G ;

Simon, B ;

Akhtar, A ;

Sattler, M ;

Musco, G .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2005, 280 (12) :11505-11512

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