Renal disorders in Autoimmune Polyendocrinopathy Candidiasis Ectodermal dystrophy (APECED): a systematic review

Authors: Mohammadreza Shafiei, Solale Hosseini, Soodeh Ghadimi, Mahbubeh Mirzaee, Mohammadamin Keikhah, Nastaran Ardalan, Masoumeh Mohkam, Mehrdad Tamiji, Mahnaz Jamee

Source: BMC Pediatrics, Vol 25, Iss 1, Pp 1-17 (2025)

Subject Terms: Autoimmune polyendocrinopathy, APECED, AIRE, Primary immunodeficiency, Inborn error of immunity, Nephrocalcinosis, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/2eec548b5e3c4e5e9f254108c7e8c71c

ORAL FINDINGS AND CLINICAL BEHAVIOR IN PATIENT HAVING AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY (APECED)

Authors: Kremena Markova, Nikolay Simeonov

Source: Journal of IMAB, Vol 30, Iss 4, Pp 5806-5810 (2024)

Subject Terms: apeced, enamel hypoplasia, dentin hyperaesthesia, Dentistry, RK1-715, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.journal-imab-bg.org/issues-2024/issue4/2024vol30-issue4-5806-5810.pdf; https://doaj.org/toc/1312-773X

Access URL: https://doaj.org/article/6404e53c67e948b08dd629c6f24fdc46

Bronchiectasis in a patient with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: a case report

Authors: Margherita S. Silani, Edoardo Simonetta, Andrea Gramegna, Alessandro De Angelis, Francesco Blasi, Stefano Aliberti

Source: BMC Pulmonary Medicine, Vol 24, Iss 1, Pp 1-5 (2024)

Subject Terms: Bronchiectasis, APECED, Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, Autoimmune polyendocrine Syndrome-1, APS-1, Autoimmune pneumonitis, Diseases of the respiratory system, RC705-779

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2466

Access URL: https://doaj.org/article/32fc7d8d461a4c76998cdb7dc73cbbb3

Early recognition of the APECED rash can accelerate the diagnosis of APECED

Authors: Elise M.N. Ferré, Chyi-Chia R. Lee, Michail S. Lionakis

Source: Clinical Immunology Communications, Vol 5, Iss , Pp 30-33 (2024)

Subject Terms: APECED, APS-1, AIRE, APECED rash, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2772613424000064; https://doaj.org/toc/2772-6134

Access URL: https://doaj.org/article/54d00f83f2644c9491e72e2b5b4d9a62

Long-term remission of candidiasis with fermented lingonberry mouth rinse in an adult patient with APECED

Authors: Pirjo Pärnänen, Juho Suojanen, Mikael Laine, Timo Sorsa, Annamari Ranki

Source: International Journal of Infectious Diseases, Vol 144, Iss , Pp 107066- (2024)

Subject Terms: Fermented lingonberry juice, Chronic mucocutaneous candidiasis, APECED, APS-1, Antifungal resistance, Infectious and parasitic diseases, RC109-216

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1201971224001371; https://doaj.org/toc/1201-9712

Access URL: https://doaj.org/article/3d5bcb3987e44b19a1a5449bd633f5e0

A diagnostic dilemma of autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome

Authors: Sanket A. Surushe, Richa Sharma, Chitra D. Kamath, Rachita S. Dhurat

Source: Indian Journal of Dermatopathology and Diagnostic Dermatology, Vol 11, Iss 1, Pp 12-14 (2024)

Subject Terms: apeced syndrome, chronic mucocutaneous candidiasis, fungal culture, gomori’s methenamine silver stain, histology, Dermatology, RL1-803

File Description: electronic resource

Relation: https://doaj.org/toc/2349-6029

Access URL: https://doaj.org/article/61b15ebe8a814ab79f6fc9a7f9b00989

Increased type 1 inflammation in gynecologic cervicovaginal samples in patients with APS-1

Authors: Hetemäki, Iivo ^a, Saari, Viivi ^{b, c, d}, Yohannes, Dawit A. ^a, Holopainen, Elina ^{c, e}, Holster, Tiina ^e, Jokiranta, Suvi ^a, Mäyränpää, Mikko I. ^f, Virtanen, Seppo ^e, Mäkitie, Outi ^{b, c, d, g}, Kekäläinen, Eliisa ^{a, ∗}, Laakso, Saila ^{b, c, d, ∗, ∗}

Source: In The Journal of Allergy and Clinical Immunology June 2024 153(6):1736-1742

Clinical case of alopecia totalis in pediatric practice

Authors: O.А. Stroi, Т.А Кyian, N.I. Balatska, L.O. Levadna, G.E. Kozynkevych

Source: Сучасна педіатрія: Україна, Iss 4(132), Pp 99-103 (2023)

Subject Terms: alopecia, autoimmune polyendocrine syndrome (apeced), immunodeficiency, treatment, obesity, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://mpu.med-expert.com.ua/article/view/285710; https://doaj.org/toc/2663-7553; https://doaj.org/toc/2706-6134

Access URL: https://doaj.org/article/642819ea17564be8b7a908b5bdf549be

Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review

Authors: Florica Sandru, Razvan-Cosmin Petca, Mihai Cristian Dumitrascu, Aida Petca, Andreea-Iuliana Ionescu (Miron), Livia-Cristiana Baicoianu-Nitescu

Source: Biomedicines, Vol 12, Iss 1, p 132 (2024)

Subject Terms: APS-1, APECED, mucocutaneous candidiasis, vitiligo, alopecia areata, cutaneous manifestations, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/2227-9059/12/1/132; https://doaj.org/toc/2227-9059

Access URL: https://doaj.org/article/865a1750665d4753a2cd8a09ab8ea836

Analysis of a series of Italian APECED patients with autoimmune hepatitis and gastro-enteropathies

Authors: Giorgia Paldino, Maria Felicia Faienza, Marco Cappa, Andrea Pietrobattista, Donatella Capalbo, Mariella Valenzise, Vito Lampasona, Annamaria Cudini, Elena Carbone, Olivia Pagliarosi, Giuseppe Maggiore, Mariacarolina Salerno, Corrado Betterle, Alessandra Fierabracci

Source: Frontiers in Immunology, Vol 14 (2023)

Subject Terms: APECED, autoimmune hepatitis, autoimmune gastro-enteropathy, AIRE, diagnostic criteria, autoimmune gastroenteropathy, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1172369/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/788c085f8c4a4b618a838e8a8115d94b

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: Aria Setoodeh, Samareh Panjeh-Shahi, Fariba Bahmani, Fatemeh Vand-Rajabpour, Nazanin Jalilian, Fatemeh Sayarifard, Farzaneh Abbasi, Azadeh Sayarifard, Parastoo Rostami, Nima Parvaneh, Haleh Akhavan-Niaki, Mohamadreza Ahmadifard, Mina Tabrizi

Source: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)

Subject Terms: APECED, APS1, Autoimmunity, AIRE, Addison, Candidiasis, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/5b6db6f799634bb7b7a4fc7d2be757a3

Autoantibody repertoire characterization provides insight into the pathogenesis of monogenic and polygenic autoimmune diseases

Authors: Thomas Clarke, Pan Du, Satyendra Kumar, Shinji L. Okitsu, Mark Schuette, Qi An, Jinyang Zhang, Evgeni Tzvetkov, Mark A. Jensen, Timothy B. Niewold, Elise M. N. Ferre, Julie Nardone, Michail S. Lionakis, Jaromir Vlach, Julie DeMartino, Andrew T. Bender

Source: Frontiers in Immunology, Vol 14 (2023)

Subject Terms: autoantibody, autoimmune disease (AD), autoimmune polyendocrinopathy candidiasis ecotodermal dystrophy (APECED), B cell receptor (BCR), Sjogren's syndrome, systemic lupus erythematosus (SLE), Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1106537/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/e823a778e94642ba916ed495ae37f622

Case report: Virus-induced hemophagocytic lymphohistiocytosis in a patient with APECED

Authors: Oksana Boyarchuk, Olha Dyvonyak, Tetyana Hariyan, Alla Volokha

Source: Frontiers in Pediatrics, Vol 11 (2023)

Subject Terms: AIRE, APECED, APS-1, COVID-19, macrophage activation syndrome, haemophagocytic lymphohistiocytosis, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1086867/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/b6b064ae811f406e93cb2c3298d6e125

Report of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?

Authors: Alessandra Fierabracci, Mariafrancesca Lanzillotta, Ivana Vorgučin, Alessia Palma, Dragan Katanić, Corrado Betterle

Source: Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-8 (2021)

Subject Terms: Autoimmune polyglandular syndrome type 1, APECED, AIRE, Serbian population, Genotype-phenotype variability, Autoantibodies, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1824-7288

Access URL: https://doaj.org/article/4afa2b6cdc9548baa6fb2fcbc35f7065

The AIRE G228W mutation disturbs the interaction of AIRE with its partner molecule SIRT1

Authors: Jadson C. Santos, Mariangela Dametto, Ana Paula Masson, Vitor M. Faça, Rodrigo Bonacin, Eduardo A. Donadi, Geraldo Aleixo Passos

Source: Frontiers in Immunology, Vol 13 (2022)

Subject Terms: AIRE, G228W mutation, AIRE-SIRT1 interaction, APECED syndrome, APS1/APECED, molecular modeling, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.948419/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/de4dd8e5035c4a96966b7847a5474dd6

HIPOPLAZIJA SKLENINE KOT ZNAK AVTOIMUNSKE POLIENDOKRINOPATIJE-KANDIDIAZE-EKTODERMALNE DISTROFIJE − PRIKAZ KLINIČNEGA PRIMERA

Authors: Lea Regoršek Vrabec, Tina Leban, Katarina Trebušak Podkrajšek, Nataša Bratina, Sara Bertok, Alenka Pavlič, Magdalena Avbelj Stefanija

Source: Slovenska pediatrija, Vol 27, Iss 1, Pp 9-14 (2020)

Subject Terms: avtoimunska poliendokrinopatija-kan- didiaza-ektodermalna distrofija (apeced), avtoimunska, mukokutana kandidiaza, hipoparatiroidizem, addisonova bolezen, hipoplazija sklenine, Medicine, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://www.slovenskapediatrija.si/Portals/0/Clanki/2020/Slovpediatr-2020-1-02.pdf; https://doaj.org/toc/1318-4423; https://doaj.org/toc/2712-3960

Access URL: https://doaj.org/article/fde4ad3324ee4cfdac91750ec632b7a3

DENTAL ENAMEL HYPOPLASIA AS A PRESENTING SIGN OF AUTOIMMUNE POLYENDOCRINOPATHY WITH CANDIDIASIS-ECTODERMAL DYSTROPHY - A CASE REPORT

Authors: Lea Regoršek Vrabec, Tina Leban, Katarina Trebušak Podkrajšek, Nataša Bratina, Sara Bertok, Alenka Pavlič, Magdalena Avbelj Stefanija

Source: Slovenska pediatrija, Vol 27, Iss 1, Pp 9-14 (2020)

Subject Terms: autoimmune polyendocrinopathy with can- didiasis and ectodermal dystrophy (apeced), autoimmune, mucocutaneous candidiasis, hypoparathyroidism, addison’s disease, enamel hypoplasia, Medicine, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://www.slovenskapediatrija.si/Portals/0/Clanki/2020/Slovpediatr-2020-1-02en.pdf; https://doaj.org/toc/1318-4423; https://doaj.org/toc/2712-3960

Access URL: https://doaj.org/article/56cb28d9be8245bc84c990d26ec3f848

Differentiation of Pluripotent Stem Cells Into Thymic Epithelial Cells and Generation of Thymic Organoids: Applications for Therapeutic Strategies Against APECED

Authors: Nathan Provin, Matthieu Giraud

Source: Frontiers in Immunology, Vol 13 (2022)

Subject Terms: thymus, IPSC, thymic epithelial cells (TEC), differentiation, APECED, tolerance, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.930963/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/580e4ddcddcc44b4802b22917ebdec1d

Generation and Characterization of iPS Cells Derived from APECED Patients for Gene Correction

Authors: Eira Karvonen, Kai J. E. Krohn, Annamari Ranki, Annika Hau

Source: Frontiers in Endocrinology, Vol 13 (2022)

Subject Terms: iPSC, pluripotency, autoimmunity, APECED, cell therapy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.794327/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/a3a3d8bf689940c8b2497679ace72788

Chapter 608 - Autoimmune Polyglandular Syndromes

Authors: Astley, Christina M., Smith, Jessica R., Wassner, Ari J.

Source: In Nelson Textbook of Pediatrics Edition: 22nd Edition. 2025:3425-3430