Results 31 to 40 of about 4,868 (133)

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

Case Reports in Immunology, 2023
Background. APECED is a syndrome characterized by autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy. The most observed clinical findings are chronic mucocutaneous candidiasis, hypoparathyroidism, and autoimmune adrenal insufficiency ...
Gulcin Aytac, Burcu Guven, Ilyas Aydin, Ezgi Topyildiz, Ayca Aykut, Asude Durmaz, Neslihan Edeer Karaca, Guzide Aksu, Necil Kutukculer   +8 more
doaj   +1 more source

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

Frontiers in Pediatrics, 2021
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type-1 (APS-1), is a rare monogenic autoimmune disease caused by loss-of-function mutations in the autoimmune regulator (AIRE) gene ...
Elise M. N. Ferré, Monica M. Schmitt, Michail S. Lionakis   +2 more
doaj   +1 more source

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

Clinical Immunology Communications
Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) is a monogenic autoimmune disease most often resulting from biallelic loss-of-function variants in the autoimmune regulator (AIRE) gene.
Elise M.N. Ferré, Chyi-Chia R. Lee, Michail S. Lionakis   +2 more
doaj   +1 more source

Neonatal Bloodstream Infections: A Narrative Review on Diagnostic and Therapeutic Challenges and Prospects in Developing Countries

Health Science Reports, Volume 9, Issue 8, August 2026.
ABSTRACT Background Bloodstream infections (BSIs) pose a significant global health challenge, particularly in developing countries. Neonates are highly vulnerable due to underdeveloped immune systems and immature physical barriers, a risk amplified by poor hygiene and limited healthcare access in low‐ and middle‐income countries (LMICs), leading to an ...
Alex Odoom, Abdul‐Halim Osman, Onyansaniba K. Ntim, Fleischer C. N. Kotey, Eric S. Donkor   +4 more
wiley   +1 more source

Successful Treatment of Chronic Mucocutaneous Candidiasis Caused by Azole-Resistant Candida albicans with Posaconazole

Clinical and Developmental Immunology, 2011
Refractory or recurrent infections of skin, nails, and the mucous membranes are clinical signs of chronic mucocutaneous candidiasis, frequently associated with immunological defects. Here we describe a 39-years-old female patient, with familial CMC, that
Davide Firinu, Orietta Massidda, Maria Maddalena Lorrai, Loredana Serusi, Monica Peralta, Maria Pina Barca, Paolo Serra, Paolo Emilio Manconi   +7 more
doaj   +1 more source

Oral lichen planus: study of 21 cases [PDF]

Anais Brasileiros de Dermatologia, 2015
BACKGROUND: Lichen planus is considered to be the most common dermatological disease involving the oral mucosa. OBJECTIVE: To investigate the profile, clinical features, and the presence of dysplasia and candidiasis in patients with oral lichen planus ...
Juliana Tristão Werneck, Taiara de Oliveira Costa, Christian Abreu Stibich, Cristhiane Almeida Leite, Eliane Pedra Dias, Arley Silva Junior   +5 more
doaj   +2 more sources

Chronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 (STAT 1) mutation in an indian patient – A case report

Indian Dermatology Online Journal, 2022
Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency due to defect in various genes leading to an increase in susceptibility to skin and mucosal infection.
Abyramy Balasundaram, Renu George, Aby Abraham, Joy S Michael   +3 more
doaj   +1 more source

From Oral Candidiasis to Candidemia: A Review of Superficial to Invasive Progression

MicrobiologyOpen, Volume 15, Issue 4, August 2026.
Recent and limited evidence indicates that oral candidiasis can disseminate Candida albicans throughout the body, leading to invasive candidiasis, such as candidemia, a life‐threatening infection. Considering antifungal resistance and global outbreaks of emergent non‐albicans Candida and related yeasts, murine models help understand dissemination ...
Julia Robledo Jerez, Marcella Vieira Ambrosio, Marcela Eduarda Olegario Fernandes, Ewerton Garcia de Oliveira Mima   +3 more
wiley   +1 more source

From Validation to Clinical Interpretation: A Flow Cytometric Th17‐Cell Assay for STAT1‐ and STAT3‐Related Inborn Errors of Immunity

Scandinavian Journal of Immunology, Volume 104, Issue 2, August 2026.
We validated a flow cytometric assay for Th17‐cell quantification and established a clinical reference interval. Th17‐cell fractions below 0.44% are associated with STAT3‐related defects, while higher values reliably exclude pathogenic variants, supporting its role as a functional tool in the diagnostic evaluation of inborn errors of immunity ...
Marie Juhl Toft, Camilla Darum Sørensen, Mette Christiansen, Carsten Schade Larsen, Mette Holm, Dinna Nedergaard, Rita Hansen, Lone Højbjerg Egedal, Nicklas Heine Staunstrup, Bjarne Kuno Møller, Mikkel Steen Petersen, Jens Magnus Bernth Jensen   +11 more
wiley   +1 more source

A diagnostic dilemma of autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome

Indian Journal of Dermatopathology and Diagnostic Dermatology
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APCED) syndrome is a rare autosomal recessive syndrome. There is a loss of function mutation in the autoimmune regulator (AIRE) gene.
Sanket A. Surushe, Richa Sharma, Chitra D. Kamath, Rachita S. Dhurat   +3 more
doaj   +1 more source