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Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants.

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Title: Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants.
Authors: Setoodeh A; Division of Endocrinology and Metabolism, Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Panjeh-Shahi S; Cellular and Molecular Biology Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, Iran., Bahmani F; Division of Endocrinology and Metabolism, Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Vand-Rajabpour F; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran., Jalilian N; Department of Clinical Biochemistry, School of Medicine, Kermanshah University of Medical Sciences, Kermanshah, Iran., Sayarifard F; Division of Endocrinology and Metabolism, Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Abbasi F; Division of Endocrinology and Metabolism, Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Sayarifard A; Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Rostami P; Division of Endocrinology and Metabolism, Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Parvaneh N; Division of Allergy and Clinical Immunology, Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Akhavan-Niaki H; Department of Medical Genetics, Faculty of Medicine, Babol University of Medical Sciences, Babol, Iran., Ahmadifard M; Department of Medical Genetics, Faculty of Medicine, Babol University of Medical Sciences, Babol, Iran., Tabrizi M; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. tabrizi@tums.ac.ir.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Jan 06; Vol. 17 (1), pp. 10. Date of Electronic Publication: 2022 Jan 06.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants.
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  Data: <searchLink fieldCode="AU" term="%22Setoodeh+A%22">Setoodeh A</searchLink>; Division of Endocrinology and Metabolism, Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Panjeh-Shahi+S%22">Panjeh-Shahi S</searchLink>; Cellular and Molecular Biology Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, Iran.<br /><searchLink fieldCode="AU" term="%22Bahmani+F%22">Bahmani F</searchLink>; Division of Endocrinology and Metabolism, Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Vand-Rajabpour+F%22">Vand-Rajabpour F</searchLink>; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Jalilian+N%22">Jalilian N</searchLink>; Department of Clinical Biochemistry, School of Medicine, Kermanshah University of Medical Sciences, Kermanshah, Iran.<br /><searchLink fieldCode="AU" term="%22Sayarifard+F%22">Sayarifard F</searchLink>; Division of Endocrinology and Metabolism, Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Abbasi+F%22">Abbasi F</searchLink>; Division of Endocrinology and Metabolism, Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Sayarifard+A%22">Sayarifard A</searchLink>; Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Rostami+P%22">Rostami P</searchLink>; Division of Endocrinology and Metabolism, Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Parvaneh+N%22">Parvaneh N</searchLink>; Division of Allergy and Clinical Immunology, Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Akhavan-Niaki+H%22">Akhavan-Niaki H</searchLink>; Department of Medical Genetics, Faculty of Medicine, Babol University of Medical Sciences, Babol, Iran.<br /><searchLink fieldCode="AU" term="%22Ahmadifard+M%22">Ahmadifard M</searchLink>; Department of Medical Genetics, Faculty of Medicine, Babol University of Medical Sciences, Babol, Iran.<br /><searchLink fieldCode="AU" term="%22Tabrizi+M%22">Tabrizi M</searchLink>; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. tabrizi@tums.ac.ir.
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  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2022 Jan 06; Vol. 17 (1), pp. 10. <i>Date of Electronic Publication: </i>2022 Jan 06.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE
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