Autoinflammatory Keratinization Diseases (AiKDs): Expansion of Disorders to Be Included
نویسندگان
چکیده
منابع مشابه
Keratinization and its disorders.
Keratins are a diverse group of structural proteins that form the intermediate filament network responsible for maintaining the structural integrity of keratinocytes. In humans, there are around 30 keratin families divided into two groups, namely, acidic and basic keratins, which are arranged in pairs. They are expressed in a highly specific pattern related to the epithelial type and stage of c...
متن کاملThe autoinflammatory diseases.
The monogenic autoinflammatory syndromes are conditions caused by mutations of genes coding for proteins that play a pivotal role in the regulation of the inflammatory response. Due to their genetic nature, most of these disorders have an early onset. Clinically they are characterised by recurrent flares of systemic inflammation presenting most of the time as sudden fever episodes associated ...
متن کامل[Hereditary systemic autoinflammatory diseases].
Systemic autoinflammatory diseases encompass different rare clinical entities characterized by recurrent acute inflammatory episodes secondary to a dysregulated inflammatory process. Since their first clinical descriptions, the Mendelian hereditary nature of some of them became evident, with their genetic and molecular basis being recently elucidated. There are disease-causing mutations in gene...
متن کاملAutoinflammatory diseases in pediatrics.
Autoinflammatory diseases (AIDs) are characterized by recurrent episodes of systemic and organ-specific inflammation. Many of these diseases share fever as a common presenting feature. Physicians need to consider AIDs in children with recurrent, unexplained fevers, when infectious and malignant causes have been discarded. This article discusses the differential diagnosis of recurrent fever in c...
متن کاملAutoinflammatory diseases in pediatrics.
Monogenic autoinflammatory syndromes are caused by mutations in protein-coding genes that have a pivotal role in the regulation of the inflammatory response. Due to their genetic nature, most of these syndromes usually begin during childhood. They are clinically characterized by recurrent episodes of systemic inflammation (fever with different clinical manifestations, such as skin rash, serosit...
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ژورنال
عنوان ژورنال: Frontiers in Immunology
سال: 2020
ISSN: 1664-3224
DOI: 10.3389/fimmu.2020.00280