Results 51 to 60 of about 4,918 (154)

Chronic Mucocutaneous Candidiasis

Nishi Nihon Hifuka, 1972
It has been said that Candida albicans can be a better clinician than most physicians and may detect systemic abnormalities before they are recognizable at the laboratory level. Chronic mucocutaneous candidiasis developed in a 7-year-old boy long before a diagnosis of marked hypothyroidism (thyroid stimulating hormone, 825μU/ml; T 4 test ...
openaire   +2 more sources

Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1

Frontiers in Endocrinology, 2018
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) or Autoimmune polyendocrine syndrome type-1 (APS-1) (APECED, OMIM 240300) is a rare, childhood onset, monogenic disease caused by mutations in the Autoimmune Regulator (AIRE) gene ...
Øyvind Bruserud, Øyvind Bruserud, Daniela-Elena Costea, Daniela-Elena Costea, Daniela-Elena Costea, Saila Laakso, Saila Laakso, Ben-Zion Garty, Ben-Zion Garty, Eirik Mathisen, Antti Mäkitie, Outi Mäkitie, Outi Mäkitie, Eystein S. Husebye, Eystein S. Husebye, Eystein S. Husebye   +15 more
doaj   +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

Treatment options for chronic mucocutaneous candidiasis [PDF]

Journal of Infection, 2016
Autosomal dominant chronic mucocutaneous candidiasis (AD-CMC) is a rare and severe primary immunodeficiency that is characterized by mucocutaneous fungal infection, autoimmunity, cerebral aneurysms, and oropharyngeal and esophageal cancer. Recently, it was discovered that STAT1 mutations are responsible for AD-CMC. These mutations lead to the inability
Veerdonk, F.L. van de, Netea, M.G.
openaire   +3 more sources

A Keratinocyte‐Mast Cell NF‐κB2/CXCL2/IL‐6 Amplification Loop Enhances Cutaneous Antifungal Defense Against C. albicans

Advanced Science, Volume 13, Issue 41, 22 July 2026.
ABSTRACT Mast cells (MCs), key innate immune sentinels at the host–environment interface, serve as primary responders to invading pathogens. However, their specific contribution to host defense against cutaneous Candida albicans (C. albicans) infection and their synergy with other immune and non‐immune cells remain poorly understood. Here, we show that
Yan Yuan, Manyun Mao, Jiaan Zhang, Zhimin Duan, JiaNing Wang, Yujie Chen, Sihan Chen, Chuting Liang, Xvyue Zhou, Songmei Geng, Min Li, Xu Chen, Ni Lian   +12 more
wiley   +1 more source

Paraneoplastic Pemphigus/Paraneoplastic Autoimmune Multiorgan Syndrome Associated With Castleman Disease: Multidisciplinary Management of a Rare Life‐Threatening Syndrome

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Refractory oral erosions or polymorphous eruptions should prompt evaluation for paraneoplastic pemphigus, particularly when associated with mediastinal masses. Early tumor excision, multidisciplinary care, and vigilant monitoring for bronchiolitis obliterans are essential to improve outcomes in Castleman disease–associated paraneoplastic ...
Ayaan Sohail, Jessica Evans, Mika Tabata
wiley   +1 more source

Congenital midline cervical cleft with respiratory epithelium: A rare association

Journal of Indian Association of Pediatric Surgeons, 2018
Congenital midline cervical cleft is a rare anomaly and is clinically apparent at birth. Histology of this defect is consistent with the presence of stratified squamous epithelium.
Jyoti Manakchand Bothra, Harish Jayaram, Mainak Deb, Michelle D E. Padua   +3 more
doaj   +1 more source

Bilateral Basal Ganglia Calcification (Fahr's Syndrome) Secondary to Hypoparathyroidism: A Case Series

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Three cases of Fahr's syndrome presented with seizures and extrapyramidal features, all linked to hypoparathyroidism with disrupted calcium‐phosphate levels. CT confirmed basal ganglia calcification. Anticonvulsants, calcium, and vitamin D controlled seizures.
Ali Gohar, Moeez Ahmad Saeed, Arham Saif, Azka Irfan, Humza Tariq, Ruman Shahzad, Amna Suhail, Haseeb Ahmad, Muhammad Husnain Ahmad   +8 more
wiley   +1 more source

Islet Autoantibodies in Adult With Pituitary and Ovarian Autoimmunity: Implications for Type 1 Diabetes Screening

Diabetes, Obesity and Metabolism, Volume 28, Issue 7, Page 5827-5833, July 2026.
ABSTRACT Purpose Type 1 diabetes is a chronic autoimmune disease characterised by progressive pancreatic β‐cell destruction and the early appearance of islet autoantibodies (islet‐AAb) during the pre‐symptomatic phases. Given the growing interest in screening and prevention of type 1 diabetes, this study aimed to assess the prevalence of pancreatic ...
Giuseppe Bellastella, Michela di Nuzzo, Miriam Longo, Paolo Cirillo, Antonietta Maio, Nicole Di Martino, Silvia Angelino, Paola Caruso, Lorenzo Scappaticcio, Maria Teresa Vietri, Maria Ida Maiorino, Katherine Esposito   +11 more
wiley   +1 more source