The expanding pathways of autoinflammation: a lesson from the first 100 genes related to autoinflammatory manifestations

Papa, Riccardo; Picco, Paolo; Gattorno, Marco

doi:10.1016/bs.apcsb.2019.11.001

Cited by 21 publications

(22 citation statements)

References 192 publications

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“…The dis-inhibition leads to an uncontrolled binding of IL-36 to the IL36 receptor resulting in enhanced signal transduction of pro-inflammatory cytokines, for example IL-8, which is essential for the migration of neutrophils ( Figure 1). 5,7,8 Data on the prevalence of DITRA in GPP patients vary significantly ranging from 23.7% to 82%, showing an association to GPP without concomitant PsO and therefore proposing a different genetic background of GPP without PsO than GPP with PsO. [9][10][11] In their review of 2018, Furue et al highlighted the role of IL-36 signalling in plaque psoriasis and pustular F I G U R E 1 Pathogenesis and genetics of GPP (main mediators) including targets for immunotherapy.…”

Section: Ne W L Ab El For G Pp-an Autoinfl Ammatory Ker Atiniz Atiomentioning

confidence: 99%

“…Autoinflammation per se is characterized by sterile inflammation without pathogenic autoantibodies or auto‐reactive T lymphocytes and by dysregulation of the inflammasome, a cytosolic multi‐protein complex in innate immune cells. This leads to an excessive maturation and secretion of IL‐1β and IL‐18 8 . Patients typically present with recurrent or persistent systemic inflammation (eg fever), abdominal and chest pain and skin symptoms 8 .…”

Section: New Label For Gpp—an Autoinflammatory Keratinization Diseasementioning

confidence: 99%

“…This leads to an excessive maturation and secretion of IL‐1β and IL‐18 8 . Patients typically present with recurrent or persistent systemic inflammation (eg fever), abdominal and chest pain and skin symptoms 8 . Classical autoinflammatory diseases present with skin symptoms such as urticarial eruptions, erythema nodosum‐like lesions, pustules, pyoderma gangrenosum or erysipelas‐like erythema.…”

Section: New Label For Gpp—an Autoinflammatory Keratinization Diseasementioning

confidence: 99%

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Generalized pustular psoriasis—Dawn of a new era in targeted immunotherapy

Neuhauser

Eyerich

Boehner

2020

Experimental Dermatology

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Generalized pustular psoriasis (GPP) is a chronic, non-communicable inflammatory skin disease which can involve multiple organs and potentially lead to a fatal outcome. GPP is characterized by acute, recurrent flares of sterile pustular lesions on erythematous skin with signs of systemic inflammation also affecting extracutaneous organs. It can be associated with a pre-existing plaque psoriasis or develop independently. Due to its low prevalence, it is defined as an orphan disease. 1-3 In our review article of 2018 "Generalized pustular psoriasis-a model disease for specific targeted immunotherapy," we presented the concept that GPP is an ideal disease to illustrate current problems in the field of inflammatory skin diseases-starting from a precise definition of this heterogeneous disease overlapping with other types of pustular diseases, 4 advances in understanding the

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Section: Ne W L Ab El For G Pp-an Autoinfl Ammatory Ker Atiniz Atiomentioning

confidence: 99%

Section: New Label For Gpp—an Autoinflammatory Keratinization Diseasementioning

confidence: 99%

Section: New Label For Gpp—an Autoinflammatory Keratinization Diseasementioning

confidence: 99%

See 1 more Smart Citation

Generalized pustular psoriasis—Dawn of a new era in targeted immunotherapy

Neuhauser

Eyerich

Boehner

2020

Experimental Dermatology

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“…In the last 20 years, remarkable progress has been made on the phenotypic and genotypic characterization of autoinflammatory disorders (1,2). The onset of an autoinflammatory phenotype early in infancy is often linked to a monogenic autoinflammatory syndrome, whose diagnosis is currently a challenge for pediatricians (2).…”

Section: Introductionmentioning

confidence: 99%

Type I Interferonopathies in Children: An Overview

et al. 2021

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Notable advances in gene sequencing methods in recent years have permitted enormous progress in the phenotypic and genotypic characterization of autoinflammatory syndromes. Interferonopathies are a recent group of inherited autoinflammatory diseases, characterized by a dysregulation of the interferon pathway, leading to constitutive upregulation of its activation mechanisms or downregulation of negative regulatory systems. They are clinically heterogeneous, but some peculiar clinical features may lead to suspicion: a familial “idiopathic” juvenile arthritis resistant to conventional treatments, an early necrotizing vasculitis, a non-infectious interstitial lung disease, and a panniculitis associated or not with a lipodystrophy may represent the “interferon alarm bells.” The awareness of this group of diseases represents a challenge for pediatricians because, despite being rare, a differential diagnosis with the most common childhood rheumatological and immunological disorders is mandatory. Furthermore, the characterization of interferonopathy molecular pathogenetic mechanisms is allowing important steps forward in other immune dysregulation diseases, such as systemic lupus erythematosus and inflammatory myositis, implementing the opportunity of a more effective target therapy.

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“…Furthermore, by forming filaments, that is, the polymerization of globular actin (G-actin) into filamentous actin (F-actin), it provides structural support and helps cells to maintain their shape and internal organization [1]. To date, several primary immunodeficiencies (PIDs) have been identified which are caused by mutations in genes which encode for proteins involved in actin regulation, also referred to as "immuno-actinopathies" [2][3][4]. PIDs can impact the immune system on different levels, from the innate immune system (phagocyte and complement defects) to the adaptive immune system (T-cell and B-cell defects) [2,3].…”

Section: Introductionmentioning

confidence: 99%

When Actin is Not Actin’ Like It Should: A New Category of Distinct Primary Immunodeficiency Disorders

2020

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An increasing number of primary immunodeficiencies (PIDs) have been identified over the last decade, which are caused by deleterious mutations in genes encoding for proteins involved in actin cytoskeleton regulation. These mutations primarily affect hematopoietic cells and lead to defective function of immune cells, such as impaired motility, signaling, proliferative capacity, and defective antimicrobial host defense. Here, we review several of these immunological “actinopathies” and cover both clinical aspects, as well as cellular mechanisms of these PIDs. We focus in particular on the effect of these mutations on human neutrophil function.

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The expanding pathways of autoinflammation: a lesson from the first 100 genes related to autoinflammatory manifestations

Cited by 21 publications

References 192 publications

Generalized pustular psoriasis—Dawn of a new era in targeted immunotherapy

Generalized pustular psoriasis—Dawn of a new era in targeted immunotherapy

Type I Interferonopathies in Children: An Overview

When Actin is Not Actin’ Like It Should: A New Category of Distinct Primary Immunodeficiency Disorders

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