PMC Articles for MedGen (Select 39125) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 238

<< First< Prev

Page of 12

Next >Last >>

Select item 111302261.

An uncommon presentation of autoimmune polyglandular syndrome type 1 (APS‐1)—A case report

Ali M. Alrufaidi, Mohammed Mosa Alnashery, Ageel Ahmad Alghanimi, Rash Elamin Ahmed Elmansor, Ramy Mohamed Ghazy

Clin Case Rep. 2024 Jun; 12(6): e9015. Published online 2024 May 27. doi: 10.1002/ccr3.9015

PMCID:: PMC11130226

Abstract Article PDF–573K

Select item 110918272.

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

Hanna Englander, Elise M. N. Ferré, Monica M. Schmitt, Michail S. Lionakis, Leslie Castelo-Soccio

Pediatr Dermatol. Author manuscript; available in PMC 2024 May 14.

Published in final edited form as: Pediatr Dermatol. 2023 Sep-Oct; 40(5): 857–859. Published online 2023 Jul 26. doi: 10.1111/pde.15380

PMCID:: PMC11091827

Abstract Article PDF–372K

Select item 110510753.

Exploring Chronic Hypocalcemia: Insights into Autoimmune Polyglandular Syndrome Type 1—A Case Study and Literature Review

Giorgiana-Flavia Brad, Delia-Maria Nicoară, Alexandra-Cristina Scutca, Meda-Ada Bugi, Raluca Asproniu, Laura-Gratiela Olariu, Iulius Jugănaru, Lucian-Ioan Cristun, Otilia Mărginean

J Clin Med. 2024 Apr; 13(8): 2368. Published online 2024 Apr 18. doi: 10.3390/jcm13082368

PMCID:: PMC11051075

Abstract Article PDF–4.6M

Select item 110220494.

Single cell characterization of blood and expanded regulatory T cells in autoimmune polyendocrine syndrome type 1

Thea Sjøgren, Shahinul Islam, Igor Filippov, Adrianna Jebrzycka, André Sulen, Lars E. Breivik, Alexander Hellesen, Anders P. Jørgensen, Kari Lima, Liina Tserel, Kai Kisand, Pärt Peterson, Annamari Ranki, Eystein S. Husebye, Bergithe E. Oftedal, Anette S.B. Wolff

iScience. 2024 Apr 19; 27(4): 109610. Published online 2024 Mar 27. doi: 10.1016/j.isci.2024.109610

PMCID:: PMC11022049

Abstract Article PDF–7.1M

Select item 109574165.

Novel homozygous mutations in AIRE leading to APS-1 and potential mechanisms based on bioinformatics analysis

Huiping Wu, Yiqi Mo, Shiwen Yu, Xiaojun Ye, Yili Lu, Chaoban Wang, Xiaoou Shan

Heliyon. 2024 Mar 30; 10(6): e28037. Published online 2024 Mar 15. doi: 10.1016/j.heliyon.2024.e28037

PMCID:: PMC10957416

Abstract Article PDF–4.5M

Select item 108134676.

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

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

Biomedicines. 2024 Jan; 12(1): 132. Published online 2024 Jan 9. doi: 10.3390/biomedicines12010132

PMCID:: PMC10813467

Abstract Article PDF–308K

Select item 107510377.

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

Laurie Brenchley, Elise M. N. Ferré, Monica M. Schmitt, Pamela J. Gardner, Michail S. Lionakis, Niki M. Moutsopoulos

Front Dent Med. Author manuscript; available in PMC 2023 Dec 26.

Published in final edited form as: Front Dent Med. 2021; 2: 670624. Published online 2021 May 12. doi: 10.3389/fdmed.2021.670624

PMCID:: PMC10751037

Abstract Article PDF–896K

Select item 107306348.

Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1

Romain Lévy, Agathe Escudier, Paul Bastard, Coralie Briand, Laura Polivka, Athanasia Stoupa, Cécile Talbotec, Anya Rothenbuhler, Marina Charbit, Dominique Debray, Christine Bodemer, Jean-Laurent Casanova, Agnès Linglart, Bénédicte Neven

J Clin Immunol. 2024; 44(1): 5. Published online 2023 Dec 19. doi: 10.1007/s10875-023-01629-x

PMCID:: PMC10730634

Abstract Article PDF–1.0M

Select item 107276669.

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy–Associated Hepatitis

Zhubene Mesbah, Nishant Tiwari, Keith Sacco

ACG Case Rep J. 2023 Dec; 10(12): e01235. Published online 2023 Dec 16. doi: 10.14309/crj.0000000000001235

PMCID:: PMC10727666

Abstract Article PDF–279K

Select item 1061778210.

A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1

Bergithe Eikeland Oftedal, Amund Holte Berger, Øyvind Bruserud, Yael Goldfarb, Andre Sulen, Lars Breivik, Alexander Hellesen, Shifra Ben-Dor, Rebecca Haffner-Krausz, Per M. Knappskog, Stefan Johansson, Anette S.B. Wolff, Eirik Bratland, Jakub Abramson, Eystein Sverre Husebye

J Clin Invest. 2023 Nov 1; 133(21): e169704. Published online 2023 Nov 1. doi: 10.1172/JCI169704

PMCID:: PMC10617782

Abstract Article PDF–2.5M

Select item 1034868611.

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

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

Front Immunol. 2023; 14: 1172369. Published online 2023 Jun 30. doi: 10.3389/fimmu.2023.1172369

PMCID:: PMC10348686

Abstract Article PDF–963K

Select item 1033603712.

Cone dystrophy associated with autoimmune polyglandular syndrome type 1

Abdulrahman Badawi, Moustafa Magliyah, Omar Alabbasi, Lama AlAbdi, Fowzan S. Alkuraya, Patrik Schatz, Hani Basher ALBalawi, Marco Mura

Sci Rep. 2023; 13: 11223. Published online 2023 Jul 11. doi: 10.1038/s41598-023-38419-9

PMCID:: PMC10336037

Abstract Article PDF–1.7M

Select item 1024123013.

Gastrointestinal manifestations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) patient: major effect on treatment and prognosis

Taieb Ach, Ben Yamna Hadami, Nadia Ghariani, Randa Said ElMabrouk, Asma Ben Abdelkrim, Maha Kacem, Mohamed Denguezli, Koussay Ach

Endocrinol Diabetes Metab Case Rep. 2023 Apr 1; 2023(2): 22-0352. Published online 2023 Apr 17. doi: 10.1530/EDM-22-0352

PMCID:: PMC10241230

Abstract Article PDF–579K

Select item 1015408314.

An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission

Gulcin Aytac, Burcu Guven, Ilyas Aydin, Ezgi Topyildiz, Ayca Aykut, Asude Durmaz, Neslihan Edeer Karaca, Guzide Aksu, Necil Kutukculer

Case Reports Immunol. 2023; 2023: 2363760. Published online 2023 Apr 25. doi: 10.1155/2023/2363760

PMCID:: PMC10154083

Abstract Article PDF–928K

Select item 1006797915.

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

Rishi Tyagi, Namita Kalra, Amit Khatri, Tavisha Goyal, Padma Yangdol, Puja Sabherwal

Int J Clin Pediatr Dent. 2023 Jan-Feb; 16(1): 139–146. doi: 10.5005/jp-journals-10005-2496

PMCID:: PMC10067979

Abstract Article PDF–21M

Select item 1005293116.

Mild COVID-19 in an APECED Patient with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) and High Titer of Type 1 IFN-Abs: A Case Report

Mariella Valenzise, Simone Foti Randazzese, Fabio Toscano, Fortunato Lombardo, Giuseppina Salzano, Cristina Pajno, Malgorzata Wasniewska, Antonio Cascio, Maureen A Su

Pathogens. 2023 Mar; 12(3): 403. Published online 2023 Mar 2. doi: 10.3390/pathogens12030403

PMCID:: PMC10052931

Abstract Article PDF–207K

Select item 998180417.

Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype

Elise M. N. Ferré, Yunting Yu, Vasileios Oikonomou, Anna Hilfanova, Chyi-Chia R. Lee, Lindsey B. Rosen, Peter D. Burbelo, Sara E. Vazquez, Mark S. Anderson, Amisha Barocha, Theo Heller, Ariane Soldatos, Steven M. Holland, Magdalena A. Walkiewicz, Michail S. Lionakis

Front Immunol. 2023; 14: 1133387. Published online 2023 Feb 17. doi: 10.3389/fimmu.2023.1133387