Research & Literature

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy.

Kisand K, Peterson P

Journal of clinical immunology 2015; (35(5)):463-78 doi:10.1007/s10875-015-0176-y.

[Induction of central tolerance by the factor Aire: molecular and epigenetic regulation].

Lopes N, Ferrier P, Irla M

Medecine sciences : M/S 2015; (31(8-9)):742-7 doi:10.1051/medsci/20153108012.

Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.

Kim JH, Shin YL, Yang S, et al.

Clinical endocrinology 2015; (83(6)):790-6 doi:10.1111/cen.12944.

Early-onset hypoparathyroidism and chronic keratitis revealing APECED.

Mezgueldi E, Bertholet-Thomas A, Milazzo S, et al.

Clinical case reports 2015; (3(10)):809-13 doi:10.1002/ccr3.354.

Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline.

Bornstein SR, Allolio B, Arlt W, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(2)):364-89 doi:10.1210/jc.2015-1710.

Bilateral Carpal Spasm Under Spinal Anaesthesia During Abdominal Hysterectomy: A Case Report.

Thanvi A, Naithani U, Betkekar SA, et al.

Journal of clinical and diagnostic research : JCDR 2016; (10(1)):UD03-4 doi:10.7860/JCDR/2016/17393.7050.

Autoimmune regulator and self-tolerance - molecular and clinical aspects.

Abramson J, Husebye ES

Immunological reviews 2016; (271(1)):127-40 doi:10.1111/imr.12419.

Autoimmune polyglandular syndrome type I can have significant kidney disease in children including recurrence in renal allograft - a report of two cases.

Gwertzman R, Corey H, Roberti I

Clinical nephrology 2016; (85(6)):358-62 doi:10.5414/CN108782.

Type 1 Diabetes in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED): A "Rare" Manifestation in a "Rare" Disease.

Fierabracci A

International journal of molecular sciences 2016; (17(7)).

Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Ferre EM, Rose SR, Rosenzweig SD, et al.

JCI insight 2016; (1(13)).

Novel Findings into AIRE Genetics and Functioning: Clinical Implications.

De Martino L, Capalbo D, Improda N, et al.

Frontiers in pediatrics 2016; (4()):86 doi:10.3389/fped.2016.00086.

Short-Term PTH(1-34) Therapy in Children to Correct Severe Hypocalcemia and Hyperphosphatemia due to Hypoparathyroidism: Two Case Studies.

Mishra PE, Schwartz BL, Sarafoglou K, et al.

Case reports in endocrinology 2016; (2016()):6838626 doi:10.1155/2016/6838626.

Assessment of autoantibodies to interferon-ω in patients with autoimmune polyendocrine syndrome type 1: using a new immunoprecipitation assay.

Larosa MDP, Mackenzie R, Burne P, et al.

Clinical chemistry and laboratory medicine 2017; (55(7)):1003-1012.

Review of Hypoparathyroidism.

Abate EG, Clarke BL

Frontiers in endocrinology 2016; (7()):172 doi:10.3389/fendo.2016.00172.

DNA breaks and chromatin structural changes enhance the transcription of autoimmune regulator target genes.

Guha M, Saare M, Maslovskaja J, et al.

The Journal of biological chemistry 2017; (292(16)):6542-6554 doi:10.1074/jbc.M116.764704.

[Oral diseases in auto-immune polyendocrine syndrome type 1].

Proust-Lemoine E, Guyot S

Presse medicale (Paris, France : 1983) 2017; (46(9)):853-863 doi:10.1016/j.lpm.2017.05.029.

SFE/SFEDP adrenal insufficiency French consensus: Introduction and handbook.

Reznik Y, Barat P, Bertherat J, et al.

Annales d'endocrinologie 2018; (79(1)):1-22 doi:10.1016/j.ando.2017.12.001.

Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1.

Sanford E, Watkins K, Nahas S, et al.

Cold Spring Harbor molecular case studies 2018; (4(3)) doi:10.1101/mcs.a002485.

Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1.

Bruserud Ø, Costea DE, Laakso S, et al.

Frontiers in endocrinology 2018; (9()):463 doi:10.3389/fendo.2018.00463.

Immune Checkpoint Inhibitor-Induced Hypoparathyroidism Associated With Calcium-Sensing Receptor-Activating Autoantibodies.

Piranavan P, Li Y, Brown E, et al.

The Journal of clinical endocrinology and metabolism 2019; (104(2)):550-556 doi:10.1210/jc.2018-01151.

Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1.

Humbert L, Cornu M, Proust-Lemoine E, et al.

Frontiers in immunology 2018; (9()):2570 doi:10.3389/fimmu.2018.02570.

Serotonin and tryptophan metabolites, autoantibodies and gut microbiome in APECED.

Naskali E, Dettmer K, Oefner PJ, et al.

Endocrine connections 2019; (8(1)):69-77.

Emergency management of adrenal insufficiency in children: advocating for treatment options in outpatient and field settings.

Miller BS, Spencer SP, Geffner ME, et al.

Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2020; (68(1)):16-25 doi:10.1136/jim-2019-000999.

Population-Based Incidence of Potentially Life-Threatening Complications of Hypocalcemia and the Role of Vitamin D Deficiency.

Aul AJ, Fischer PR, O'Grady JS, et al.

The Journal of pediatrics 2019; (211()):98-104.e4 doi:10.1016/j.jpeds.2019.02.018.

Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance.

Ferré EMN, Break TJ, Burbelo PD, et al.

Science translational medicine 2019; (11(495)) doi:10.1126/scitranslmed.aav5597.

Adrenal crisis: prevention and management in adult patients.

Dineen R, Thompson CJ, Sherlock M

Therapeutic advances in endocrinology and metabolism 2019; (10()):2042018819848218 doi:10.1177/2042018819848218.

Delay in the Diagnosis of APECED: A Case Report and Review of Literature from Iran.

Jamee M, Mahdaviani SA, Mansouri D, et al.

Immunological investigations 2020; (49(3)):299-306 doi:10.1080/08820139.2019.1671451.

Persistence of Clonal Azole-Resistant Isolates of Candida albicans from a Patient with Chronic Mucocutaneous Candidiasis in Colombia.

Ceballos-Garzon A, Wintaco-Martínez LM, Velez N, et al.

Journal of global infectious diseases 2020; (12(1)):16-20 doi:10.4103/jgid.jgid_74_19.

A case report and literature review: Identification of a novel AIRE gene mutation associated with Autoimmune Polyendocrine Syndrome Type 1 in East Asians.

Yan Z, Gang X, Xie X, et al.

Medicine 2020; (99(18)):e20000 doi:10.1097/MD.0000000000020000.

Diagnosis and management of hypocalcemia.

Pepe J, Colangelo L, Biamonte F, et al.

Endocrine 2020; (69(3)):485-495 doi:10.1007/s12020-020-02324-2.

APECED-Associated Hepatitis: Clinical, Biochemical, Histological and Treatment Data From a Large, Predominantly American Cohort.

Chascsa DM, Ferré EMN, Hadjiyannis Y, et al.

Hepatology (Baltimore, Md.) 2021; (73(3)):1088-1104 doi:10.1002/hep.31421.

Autoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients.

Fierabracci A, Arena A, Toto F, et al.

Journal of endocrinological investigation 2021; (44(4)):661-677 doi:10.1007/s40618-020-01376-5.

Impact of periprocedural subcutaneous parathyroid hormone on control of hypocalcaemia in APS-1/APECED patients undergoing invasive procedures.

Winer KK, Schmitt MM, Ferre EMN, et al.

Clinical endocrinology 2021; (94(3)):377-383 doi:10.1111/cen.14335.

AAV9-mediated AIRE gene delivery clears circulating antibodies and tissue T-cell infiltration in a mouse model of autoimmune polyglandular syndrome type-1.

Almaghrabi S, Azzouz M, Tazi Ahnini R

Clinical & translational immunology 2020; (9(9)):e1166 doi:10.1002/cti2.1166.

Pubertal development and premature ovarian insufficiency in patients with APECED.

Saari V, Holopainen E, Mäkitie O, Laakso S

European journal of endocrinology 2020; (183(5)):513-520.

A Patient With AIRE Mutation Who Presented With Severe Diarrhea and Lung Abscess.

Soyak Aytekin E, Serin O, Cagdas D, et al.

The Pediatric infectious disease journal 2021; (40(1)):66-69 doi:10.1097/INF.0000000000002887.

Adrenal insufficiency.

Husebye ES, Pearce SH, Krone NP, Kämpe O

Lancet (London, England) 2021; (397(10274)):613-629 doi:10.1016/S0140-6736(21)00136-7.

Autoimmune Addison's Disease as Part of the Autoimmune Polyglandular Syndrome Type 1: Historical Overview and Current Evidence.

Perniola R, Fierabracci A, Falorni A

Frontiers in immunology 2021; (12()):606860 doi:10.3389/fimmu.2021.606860.

Clinical, immunological, and genetic features in 938 patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a systematic review.

Sharifinejad N, Zaki-Dizaji M, Tebyanian S, et al.

Expert review of clinical immunology 2021; (17(8)):807-817 doi:10.1080/1744666X.2021.1925543.

Multiplex Autoantibody Detection in Patients with Autoimmune Polyglandular Syndromes.

Savvateeva EN, Yukina MY, Nuralieva NF, et al.

International journal of molecular sciences 2021; (22(11)) doi:10.3390/ijms22115502.

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

Fierabracci A, Lanzillotta M, Vorgučin I, et al.

Italian journal of pediatrics 2021; (47(1)):126 doi:10.1186/s13052-021-01075-8.

AIRE Gene Mutation Presenting at Age 2 Years With Autoimmune Retinopathy and Steroid-Responsive Acute Liver Failure: A Case Report and Literature Review.

Sakaguchi H, Mizuochi T, Haruta M, et al.

Frontiers in immunology 2021; (12()):687280 doi:10.3389/fimmu.2021.687280.

Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy.

Halabi I, Barohom MN, Peleg S, et al.

Frontiers in endocrinology 2021; (12()):645279 doi:10.3389/fendo.2021.645279.

Fatal autoimmune pneumonitis requiring bilobectomy and omental flap repair in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).

Kubala SA, Do HM, Ferré EMN, et al.

Respiratory medicine case reports 2021; (33()):101476 doi:10.1016/j.rmcr.2021.101476.

Infections and demanding endocrine care contribute to increased mortality in patients with APECED.

Borchers J, Mäkitie O, Laakso S

European journal of endocrinology 2021; (185(5)):K13-K17.

Infections in the monogenic autoimmune syndrome APECED.

Oikonomou V, Break TJ, Gaffen SL, et al.

Current opinion in immunology 2021; (72()):286-297 doi:10.1016/j.coi.2021.07.011.

Latent Adrenal Insufficiency: From Concept to Diagnosis.

Younes N, Bourdeau I, Lacroix A

Frontiers in endocrinology 2021; (12()):720769 doi:10.3389/fendo.2021.720769.

Pregnancy Outcome in Women With APECED (APS-1): A Multicenter Study on 43 Females With 83 Pregnancies.

Laakso S, Holopainen E, Betterle C, et al.

The Journal of clinical endocrinology and metabolism 2022; (107(2)):e528-e537 doi:10.1210/clinem/dgab705.

Diverse etiologies, diagnostic approach, and management of primary adrenal insufficiency in pediatric age.

Yoo HW

Annals of pediatric endocrinology & metabolism 2021; (26(3)):149-157 doi:10.6065/apem.2142150.075.

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy.

Ferré EMN, Schmitt MM, Lionakis MS

Frontiers in pediatrics 2021; (9()):723532 doi:10.3389/fped.2021.723532.

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.

Setoodeh A, Panjeh-Shahi S, Bahmani F, et al.

Orphanet journal of rare diseases 2022; (17(1)):10 doi:10.1186/s13023-021-02170-z.

[Emergency card, emergency medication, and information leaflet for the prevention and treatment of adrenal crisis (Addison crisis): an Austrian consensus document].

Pilz S, Krebs M, Bonfig W, et al.

Journal fur klinische Endokrinologie und Stoffwechsel 2022; (15(1)):5-27 doi:10.1007/s41969-022-00155-2.

Mycophenolate-Induced Colitis in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients.

Schmitt MM, Ferré EMN, De Melo MS, et al.

JPGN reports 2021; (2(4)) doi:10.1097/pg9.0000000000000131.

Clinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia-Case Series.

Skrabic V, Skrabic I, Skrabic R, et al.

Genes 2022; (13(4)) doi:10.3390/genes13040558.

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

Boyarchuk O, Dyvonyak O, Hariyan T, Volokha A

Frontiers in pediatrics 2023; (11()):1086867 doi:10.3389/fped.2023.1086867.

A Rare Case of Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy Syndrome: Dental Perspective on Diagnosis and Management.

Tyagi R, Kalra N, Khatri A, et al.

International journal of clinical pediatric dentistry 2023; (16(1)):139-146 doi:10.5005/jp-journals-10005-2496.

Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.

Oftedal BE, Assing K, Baris S, et al.

iScience 2023; (26(6)):106818 doi:10.1016/j.isci.2023.106818.

Alopecia areata and occurrence of vitiligo and hypothyroidism in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.

Englander H, Ferré EMN, Schmitt MM, et al.

Pediatric dermatology 2023; (40(5)):857-859 doi:10.1111/pde.15380.

Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1.

Lévy R, Escudier A, Bastard P, et al.

Journal of clinical immunology 2023; (44(1)):5 doi:10.1007/s10875-023-01629-x.

Case Report: Dental Findings Can Aid in Early Diagnosis of APECED Syndrome.

Brenchley L, Ferré EMN, Schmitt MM, et al.

Frontiers in dental medicine 2021; (2()) doi:10.3389/fdmed.2021.670624.

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

Sandru F, Petca RC, Dumitrascu MC, et al.

Biomedicines 2024; (12(1)) doi:10.3390/biomedicines12010132.

APECED and the place of AIRE in the puzzle of the immune network associated with autoimmunity.

Aytekin ES, Cagdas D

Scandinavian journal of immunology 2023; (98(2)):e13299 doi:10.1111/sji.13299.

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

Ferré EMN, Lee CR, Lionakis MS

Clinical immunology communications 2024; (5()):30-33 doi:10.1016/j.clicom.2024.03.001.

Progressive Impairment of Prepubertal Growth in Children With APECED.

Saari V, Alanko V, Holopainen E, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(2)):e257-e265 doi:10.1210/clinem/dgae209.

The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1.

Oikonomou V, Smith G, Constantine GM, et al.

The New England journal of medicine 2024; (390(20)):1873-1884 doi:10.1056/NEJMoa2312665.

A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.

Ochoa S, Hsu AP, Oler AJ, et al.

Science translational medicine 2024; (16(765)):eadk0845 doi:10.1126/scitranslmed.adk0845.

Treatment and Prevention of Adrenal Crisis and Family Education

Çamtosun E, Sangün Ö

Journal of clinical research in pediatric endocrinology 2025; (17(Suppl 1)):80-92 doi:10.4274/jcrpe.galenos.2024.2024-6-12-S.

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

Shafiei M, Hosseini S, Ghadimi S, et al.

BMC pediatrics 2025; (25(1)):139 doi:10.1186/s12887-025-05458-2.

Delayed diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a Vietnamese adolescent male presenting with hypotension.

Le BT, Nguyen TQ, Nguyen CT, et al.

BMJ case reports 2025; (18(5)) doi:10.1136/bcr-2025-264874.

Adrenal Insufficiency in Adults: A Review.

Vaidya A, Findling J, Bancos I

JAMA 2025; (334(8)):714-725 doi:10.1001/jama.2025.5485.

Head and Neck Malignancies in Autoimmune Polyendocrine Syndrome Type 1 (APS-1/APECED): A Scoping Review of Molecular Pathogenesis, Clinical Features, and Outcomes.

Tarle M, Raguž M, Lukšić I

International journal of molecular sciences 2025; (26(18)) doi:10.3390/ijms26188969.

Proton pump inhibitor induced hypocalcemia presenting with carpopedal spasm- a rare case report from Nepal.

Pahari N, Pahari M, Ghimire S, et al.

International journal of emergency medicine 2026; (19(1)).

Approach to the patient with APS-1/APECED.

Webb T, Pechacek J, Lionakis MS

The Journal of clinical endocrinology and metabolism 2026; doi:10.1210/clinem/dgag282.

Performance of expanded diagnostic criteria for APECED in independent cohorts and implications for earlier diagnosis.

Ferré EM, Pechacek J, Schmitt MM, et al.

JCI insight 2026; (11(14)).

Palopegteriparatide treatment for hypoparathyroidism in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: a case series and literature update.

Akers H, Maxey L, Ashley K, et al.

JBMR plus 2026; (10(9)):ziag114 doi:10.1093/jbmrpl/ziag114.

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED): Epidemiology, Pathogenesis, Clinical Manifestations, Diagnosis, and Management.

Hamidi M, Kamrani M, Karami S, et al.

Endocrine, metabolic & immune disorders drug targets 2026; doi:10.2174/0118715303511788260918112249.