Results 91 to 100 of about 178,684 (248)

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. [PDF]

, 2015
PFAPA syndrome is the most common autoinflammatory syndrome in children from Western countries. In spite of its strong familial clustering, its genetic basis and inheritance pattern are still unknown.
Bedoni, N., Gioia, S.A., Hofer, M., Rivolta, C., Superti-Furga, A., Vanoni, F., von Scheven-Gête, A.   +6 more
core   +3 more sources

Autosomal Dominant Hyper‐IgE Syndrome Patients Retain IL10‐Producing preTh17‐Cells That Are Activated by Opportunistic Pathogens and Support IgE Production

Allergy, EarlyView.
IL‐10 producing CCR6+Th‐cells are central memory T‐cells that express ROR‐γt and differentiate to Th17‐cells via an autocrine loop of STAT3‐activating cytokines (preTh17). STAT3‐deficient AD‐HIES patients lack Th17‐ and Tfh17‐cells but retain preTh17‐ and Th1/17‐cells.
Giorgia Moschetti, Chiara Vasco, Francesca Clemente, Paola Larghi, Sara Maioli, Edoardo Scarpa, Elena Carelli, Nadia Pulvirenti, Maria Lucia Sarnicola, Mariacristina Crosti, Manal Bel Imam, Willem van de Veen, Loris Rizzello, Sergio Abrignani, Lucia A. Baselli, Rosa Maria Dellepiane, Maria Carrabba, Giovanna Fabio, Jens Geginat   +18 more
wiley   +1 more source

Decoding the impact of autoinflammatory/autoimmune diseases on inner ear harmony and hearing loss

Exploration of Immunology
Autoimmune and autoinflammatory diseases affecting the inner ear can cause symptoms such as hearing loss, imbalance, vertigo, and tinnitus, presenting demanding and often underdiagnosed conditions.
Michail Athanasopoulos, Pinelopi Samara, Ioannis Athanasopoulos   +2 more
doaj   +1 more source

The Role of Notch Signaling and Gut Microbiota in Autoinflammatory Diseases: Mechanisms and Future Views

Biomedicines
Notch signaling is an evolutionarily conserved, multifunctional pathway involved in cell fate determination and immune modulation and contributes to the pathogenesis of autoinflammatory diseases.
Vincenzo Giambra, Mario Caldarelli, Laura Franza, Pierluigi Rio, Gaja Bruno, Serena di Iasio, Andrea Mastrogiovanni, Antonio Gasbarrini, Giovanni Gambassi, Rossella Cianci   +9 more
doaj   +1 more source

Deciphering the full spectrum of Castleman diseases based on a cohort of 700 patients in a western country

British Journal of Haematology, EarlyView.
The spectrum of Castleman diseases has expanded over the past three decades. The phenotype of the diseases varies not only among the three major types but also according to the patient ancestry. Summary Under the Castleman disease (CD) eponym, three distinct diseases sharing common pathological features have been described over time.
Eric Oksenhendler, Marion Malphettes, Véronique Meignin, David Boutboul, Lionel Galicier   +4 more
wiley   +1 more source

Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis [PDF]

, 2010
We report a 16-year-old female patient with a severe course of multiple sclerosis and concomitant symptoms suggestive of a hereditary autoinflammatory disease.
Blaschek, Astrid, Borggraefe, I., Heinen, F., Hohlfeld, R., Huss, K., Kümpfel, T., Lohse, P., Mueller-Felber, W.   +7 more
core   +1 more source

Erosive pustular dermatosis of the lower legs (EPDL): A rarely diagnosed neutrophilic dermatosis of the elderly

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Erosive pustular dermatosis of the lower legs (EPDL) is a rarely diagnosed, chronic inflammatory skin disease that occurs predominantly in elderly people. Predisposing factors include skin atrophy, chronic venous insufficiency, and trauma. Although the pathogenesis of EPDL has not yet been conclusively clarified, there are ongoing discussions ...
Joachim Dissemond, Jan Kottner, Jan‐Malte Placke, Cornelia Erfurt‐Berge   +3 more
wiley   +1 more source

Macrophage Activation Syndrome as Onset of Systemic Lupus Erythematosus: A Case Report and a Review of the Literature [PDF]

, 2015
Macrophage activation syndrome (MAS) is a potentially fatal condition. It is a rare complication of several autoimmune disorders, including systemic lupus erythematosus (SLE) and systemic juvenile idiopathic arthritis (sJIA).
Didona, Dario, Feola, Aldo, Granata, Guido, Granata, Massimo, Stifano, Giuseppina   +4 more
core   +4 more sources

Autoinflammatory Bone Diseases

Balkan Medical Journal
Autoinflammatory bone diseases (AIBDs) constitute a recently identified subset of autoinflammatory diseases. These conditions are characterized by an exaggerated inflammatory response in the bones without any apparent etiology. Inflammatory bone lesions associated with AIBDs exhibit chronic inflammation, are typically culture-negative, and do not ...
Haslak, Fatih, Akay, Nergis, Gul, Umit, Gunalp, Aybuke, Konte, Elif Kilic, Sahin, Sezgin, Kasapcopur, Ozgur   +6 more
openaire   +4 more sources

Cold plasma treatment for oral lichen planus: a retrospective case collection and proposal of a new clinical score

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background and objectives Oral lichen planus (OLP) is a chronic autoimmune mucosal disease with malignant potential and limited treatment options. This study evaluated the long‐term efficacy and safety of cold atmospheric plasma (CAP) therapy in therapy‐refractory OLP and introduced the novel Lichen Planus Severity Score (LPSS).
Christian Seebauer, Hans‐Robert Metelmann, Mohamed Falougy, Wolfram Kaduk, Lasse Kremer, Georg Daeschlein   +5 more
wiley   +1 more source