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Spectrum of Genetic Autoinflammatory Diseases Presenting with Cutaneous Symptoms
Autoinflammatory diseases comprise a group of chronic disabling entities characterized by inflammation without the presence of infectious agents, auto-antibodies or antigen-specific T-cells. Many autoinflammatory diseases are caused by monogenic defects,
Hanna Bonnekoh +5 more
doaj +1 more source
Autoinflammatiós kórképek = Autoinflammatory diseases [PDF]
Absztrakt: Az autoinflammatiós szindrómák a veleszületett immunrendszert érintő, visszatérő szisztémás gyulladásos tünetekkel, súlyos szövődményekkel jellemezhető kórképek.
Mosdósi, Bernadett +3 more
core +1 more source
Hereditary systemic autoinflammatory diseases and Schnitzler\u27s syndrome [PDF]
The systemic autoinflammatory diseases are disorders of the innate immune system distinguished by severe inflammation resulting from dysregulation of the innate immune system.
Savic, Sinisa +2 more
core +1 more source
Adenosine deaminase 2 deficiency (DADA2) is a rare monogenic vasculopathy caused by loss-of-function homozygous or compound heterozygous mutations in ADA2, formerly CECR1 (cat eye syndrome chromosome region 1) gene.
A. Colangelo +5 more
doaj +1 more source
Autoinflammatory keratinization diseases [PDF]
ファイル公開:2018-12 ...
Akiyama, Masashi +3 more
openaire +3 more sources
The pathogenic model of hidradenitis suppurativa is in the midst of a paradigm shift away from a disorder of primary follicular occlusion to an autoinflammatory keratinization disease.
John W. Frew, MBBS, MMed, MSc
doaj +1 more source
Therapy of autoinflammatory syndromes [PDF]
The therapy of autoinflammatory syndromes is an excellent example of the power of translational research. Recent advances in our understanding of the molecular and immunologic basis of this newly identified classification of disease have allowed for the application of novel, effective, targeted treatments with life-changing effects on patients ...
openaire +2 more sources
Adult-onset Still’s disease presenting with aseptic meningitis: a case report
Adult-onset Still’s disease (AOSD) is a systemic autoinflammatory disorder characterized by high spiking fever, evanescent rash, arthritis, sore throat, and lymphadenopathy. The pathogenesis of AOSD remains unclear.
Xiao-Fen Li +7 more
doaj +1 more source
Dermatologic and dermatopathologic features of monogenic autoinflammatory diseases [PDF]
Autoinflammatory diseases include disorders with a monogenic cause and also complex conditions associated to polygenic or multifactorial factors. An increased number of both monogenic and polygenic autoinflammatory conditions have been identified during ...
Solanich, Xavier +3 more
core +1 more source
Development of a Disease Activity Index for the Assessment of VEXAS Syndrome (VEXAS‐DAI)
Objective Vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS) syndrome is characterized by a complex spectrum of inflammatory and hematologic manifestations. Clinical research to identify effective therapies is urgently needed but is hindered by the lack of validated outcome measures.
Kevin Byram +25 more
wiley +1 more source

