Results 11 to 20 of about 5,018,411 (238)
The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases [PDF]
Frontiers in Medicine, 2022 ObjectiveThe present manuscript aims to describe an international, electronic-based, user-friendly and interoperable patient registry for monogenic autoinflammatory diseases (mAIDs), developed in the contest of the Autoinflammatory Diseases Alliance (AIDA) Network.MethodsThis is an electronic platform, based on the Research Electronic Data Capture ...
Carla Gaggiano +103 more
core +15 more sources
Autoinflammatory disease in the lung [PDF]
Immunology, 2018 SummaryAscertaining the dominant cell type driving an immunological disease is essential to understanding the causal pathology and, therefore, selecting or developing an effective treatment. Classifying immunological diseases in this way has led to successful treatment regimens for many monogenic diseases; however, when the dominant cell type is ...
Scambler, T +4 more
openaire +6 more sources
Rare Autoinflammatory Diseases
Turkish Archives of Pediatrics, 2021 Systemic autoinflammatory diseases are disorders caused by dysregulation of the innate immune system leading to systemic inflammation. Since the first gene had been identified causing Familial Mediterranean Fever, the most common hereditary systemic autoinflammatory disease, advances in genomic techniques and awareness of the diseases have led to ...
BAŞARAN, HALİDE ÖZGE +2 more
openaire +4 more sources
Case Report: Genetic Double Strike: VEXAS and TET2-Positive Myelodysplastic Syndrome in a Patient With Long-Standing Refractory Autoinflammatory Disease [PDF]
Frontiers in Immunology, 2022 Somatic genetic mutations involving the innate and inflammasome signaling are key drivers of the pathogenesis of myelodysplastic syndromes (MDS). Herein, we present a patient, who suffered from a long-standing refractory adult-onset autoinflammatory ...
Fabian Lötscher +9 more
doaj +3 more sources
Autoinflammatory disease syndrome of hyperimmunoglobulinemia D [PDF]
Медицинский вестник Юга России, 2022 Objective: present a clinical case of a rare autoinflammatory disease. Materials and methods: an analysis of a clinical case of mevalonate kinase deficiency syndrome in an 8-year-old girl was carried out.
T. M. Somova
doaj +2 more sources
Evaluation of common NLRP3 Q703K variant in pediatric patients with autoinflammatory disease: CAPS and PFAPA [PDF]
The Turkish Journal of Pediatrics, 2023 Background. Gain-of-function mutations of the NLR family pyrin domain containing 3 (NLRP3) gene have been implicated in autoinflammatory diseases. The NLRP3 Q703K variant is a common variant associated with Cryopyrin-associated periodic syndromes (
Yasemin Kendir-Demirkol +3 more
doaj +2 more sources
Diagnostic dilemma in autoinflammatory disease in two patients: does the name matter? [PDF]
The Turkish Journal of Pediatrics, 2013 The systemic autoinflammatory diseases are inflammatory disorders characterized by uncontrolled inflammation of the innate immune system. A common monogenic autoinflammatory disease is familial Mediterranean fever (FMF), associated with mutations ...
Bora Gülhan +3 more
doaj +2 more sources
γδ T Cells in Autoinflammatory Diseases
CellsAutoinflammatory diseases are characterized by inappropriate activation of innate immunity resulting in excessive or persistent inflammation in the absence of infection.
Ilan Bank
doaj +2 more sources
Macroglobulinemia and Autoinflammatory Disease. [PDF]
Rheumatol Immunol Res, 2021 Abstract Macroglobulinemia is associated with Schnitzler syndrome (SchS) and Waldenstrom macroglobulinemia (WM). The aim of this article was to review the above-mentioned two diseases from clinical aspects and their potential genetic links. We performed a PubMed search using the following keywords: “SchS,” “WM,” “autoinflammatory disease,
Navetta-Modrov B, Yao Q.
europepmc +4 more sources
Myelodysplastic syndrome with trisomy 8 presenting periodic fever and multiple MEFV gene variants outside exon 10: a case report [PDF]
, 2023 Myelodysplastic syndrome is associated with the development of autoinflammatory conditions, such as recurrent fever, polymyalgia, arthralgia, and erythema.
Hanajiri, Ryo +10 more
core +1 more source