Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients

The Journal of Clinical Endocrinology and Metabolism
Antonella MeloniMauro Congia

Abstract

Autoimmune polyendocrine syndrome type 1 (APS1) is a childhood-onset monogenic disorder caused by mutations in the autoimmune regulator (AIRE) gene, including the distinctive R139X in Sardinia. Its rarity and great variability in manifestations/onset ages make early diagnosis difficult. To date, very few longitudinal studies of APS1 patients have been reported. The aim of this study was to describe the features and clinical course of APS1 and correlate them with AIRE and HLA class II genotypes in a large homogeneous cohort of Sardinian patients followed for up to 25 yr. Twenty-two pediatric APS1 patients were studied prospectively. This Sardinian series (female/male ratio, 1.44; median current age, 30.7 yr; range, 1.8-46 yr) showed early disease onset (age range, 0.3-10 yr; median, 3.5 yr) and severe phenotype (on average, seven manifestations per patient). Besides the classic triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease, autoimmune hepatitis was a serious and surprisingly common/early/presenting feature (27%; two deaths), with a 5:1 female bias (median age, 6 yr; range, 2.5-11 yr). By contrast, type 1 diabetes was rare (one patient), and hypothyroidism was not seen. Additional disease c...Continue Reading

Citations

Sep 6, 2013·Current Diabetes Reports·Terence J Wilkin
Nov 8, 2012·International Journal of Endocrinology·Donatella CapalboMariacarolina Salerno
Feb 5, 2014·Journal of Clinical Immunology·Adrien Katalin SarkadiLászló Maródi
Apr 9, 2014·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Nicolas KlugerAnnamari Ranki
Jul 15, 2015·International Reviews of Immunology·Beáta SoltészLászló Maródi
Sep 20, 2015·Clinical Endocrinology·Ja Hye KimHan-Wook Yoo
Jan 16, 2016·The Journal of Allergy and Clinical Immunology·Bodo GrimbacherHans-Hartmut Peter
Mar 29, 2014·Clinical and Experimental Immunology·M Dalla CostaC Betterle
Oct 23, 2012·International Reviews of Immunology·Donatella CapalboClaudio Pignata
Jul 5, 2015·Journal of Clinical Immunology·Kai Kisand, Pärt Peterson
Mar 26, 2015·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Nicolas KlugerAnnamari Ranki
Aug 10, 2016·Current Opinion in Immunology·Øyvind BruserudEystein S Husebye
Oct 6, 2016·Frontiers in Immunology·Esmaeil MortazIan M Adcock
Oct 25, 2016·Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology·Federica IncaniMaria Cristina Rosatelli
Oct 21, 2016·Oral Diseases·L Abusleme, N M Moutsopoulos
Apr 23, 2015·Journal of Dental Research·N M MoutsopoulosG Hajishengallis
Nov 8, 2017·Journal of Pediatric Gastroenterology and Nutrition·Giorgina Mieli-VerganiNedim Hadzic
Dec 28, 2017·BioMed Research International·Maria Grazia ClementePietro Vajro
Oct 20, 2018·The Journal of Clinical Endocrinology and Metabolism·Antonella MeloniCristina Cocco
Jan 15, 2013·Journal of Clinical Gastroenterology·Nicolas KlugerAnnamari Ranki
Mar 19, 2020·The Journal of Clinical Endocrinology and Metabolism·Joonatan BorchersSaila Laakso
Apr 23, 2016·Journal of Pediatric Endocrinology & Metabolism : JPEM·Mahnaz Seifi-AlanFarzaneh Abbasi
Jun 20, 2014·Journal of Pediatric Endocrinology & Metabolism : JPEM·Kelly Egan HuibregtseEllen L Connor
Sep 16, 2017·The Journal of Clinical Endocrinology and Metabolism·Elizaveta M OrlovaEystein S Husebye
Jan 23, 2018·Journal of Pediatric Gastroenterology and Nutrition·Giorgina Mieli-VerganiNedim Hadžić
Jul 20, 2019·Journal of Endocrinological Investigation·C BetterleJ Furmaniak
Nov 5, 2014·European Journal of Pediatrics·Ori EyalNaomi Weintrob
Aug 19, 2017·Journal of Endocrinological Investigation·G J Kahaly, L Frommer
Apr 13, 2018·Nature Reviews. Disease Primers·Giorgina Mieli-VerganiAldo J Montano-Loza
Jun 7, 2019·Science Translational Medicine·Elise M N FerréMichail S Lionakis
Mar 15, 2013·The Journal of Immunology : Official Journal of the American Association of Immunologists·Xiaopei L ZengMaureen A Su

❮ Previous
Next ❯

Related Concepts

Related Feeds

Addison Disease

Addison's disease, also known as primary adrenal insufficiency and hypocortisolism, is a long-term endocrine disorder in which the adrenal glands do not produce enough steroid hormones. Discover the latest research on Addison's disease here.

Autoimmune Diseases

Autoimmune diseases occur as a result of an attack by the immune system on the body’s own tissues resulting in damage and dysfunction. There are different types of autoimmune diseases, in which there is a complex and unknown interaction between genetics and the environment. Discover the latest research on autoimmune diseases here.

Autoimmune Polyendocrine Syndromes

This feed focuses on a rare genetic condition called Autoimmune Polyendocrine Syndromes, which are characterized by autoantibodies against multiple endocrine organs. This can lead to Type I Diabetes.

Autoimmune Hepatitis

Autoimmune hepatitis formerly called lupoid hepatitis, is a chronic, autoimmune disease of the liver that occurs when the body's immune system attacks liver cells causing the liver to be inflamed. Discover the latest research on autoimmune hepatitis here.

Autoimmune Polyendocrinopathies

Autoimmune polyendocrinopathies, also called polyglandular autoimmune syndromes (PGASs), or polyendocrine autoimmune syndromes(PASs), are a heterogeneous group of rare diseases characterized by autoimmune activity against more than one endocrine organ, although non-endocrine organs can be affected. Discover the latest research on autoimmune polyendocrinopathies here.

Related Papers

The Journal of Clinical Endocrinology and Metabolism
Mark S Anderson
Nature Reviews. Endocrinology
A W Michels, Peter A Gottlieb
Journal of Pediatric Endocrinology & Metabolism : JPEM
Maria DominguezColm Costigan
© 2022 Meta ULC. All rights reserved