Results 41 to 50 of about 4,868 (133)

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

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

Exome sequencing reveals gain-of-function mutations in STAT1 conferring predisposition to chronic mucocutaneous candidiasis and tuberculosis in six Colombian patients

Revista Alergia México, 2018
Background: The transcription factor STAT1 plays a critical role in the immune response against mycobacterial, viral and fungal infections. Different mutations in STAT1 result in diverse clinical phenotypes: AR complete/partial biallelic mutations are ...
Marcela Moncada-Vélez, Lucía Victoria Erazo-Borrás, Jesús Armando Álvarez-lvarez, Carlos Andrés Arango, Miyuki Tsumura, Satoshi Okada, Sara Daniela Osorio, Lorena Castro, Natalia González, Catalina Arango, Julio César Orrego, Lina Riaño, Juan Fernando Alzate, Felipe Cabarcas, Jean-Laurent Casanova, Jacinta Bustamante, Anne Puel, Andrés Augusto Arias, José Luis Franco   +18 more
doaj  

Insights Into the Susceptibility of Fungal Infection and STAT3 Genetic Mutations

Mycoses, Volume 69, Issue 7, July 2026.
ABSTRACT Signal transducer and activator of transcription 3 (STAT3) is a key transcription factor that regulates a spectrum of genes and signalling pathways critical for the antifungal immune response. Mutations in the STAT3 gene confer susceptibility to severe and recurrent fungal infections, predominantly via disruption of interleukin‐17 (IL‐17 ...
Fengming Li, Xiaodong Liu, Yuanyuan Li, Jie Wu, Ningning Dang, Jing Guo   +5 more
wiley   +1 more source

Unsupervised Flow Cytometry Reveals a Constant Shift Towards Activated CD4+ T Cell Subsets in APECED

Scandinavian Journal of Immunology, Volume 104, Issue 1, July 2026.
APECED is caused by mutations of AIRE that impair negative selection in the human thymus. Using our optimized unsupervised workflow, we reveal that APECED patients show increased activation of T cells and alterations to their Treg pool as well as a novel T cell population not found among healthy controls.
Joonatan Mattila, Nelli Heikkilä, Iivo Hetemäki, Joonatan Borchers, Outi Mäkitie, Saila Laakso, T Petteri Arstila   +6 more
wiley   +1 more source

A novel case of chronic mucocutaneous candidiasis: Overlap between autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy syndrome and hyper IgE syndrome

Indian Journal of Paediatric Dermatology, 2018
Chronic mucocutaneous candidiasis (CMC) is a clinical entity where extensive fungal infection of skin, hair, nail, and mucosa with Candida sp. is seen. It has got association with several immunological and endocrinal dysfunctions.
Bauyelal Mahto, Payel Kundu, Aniruddha Ghosh, Sandipan Dhar   +3 more
doaj   +1 more source