Autoinflammatory diseases in childhood, part 2: polygenic syndromes

Navallas, María; Clemente, Emilio J. Inarejos; Iglesias, E.; Rebollo-Polo, Mónica; Zaki, Faizah Mohd; Navarro, Oscar M.

doi:10.1007/s00247-019-04544-9

Cited by 22 publications

(12 citation statements)

References 59 publications

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“…While most of these have strong genetic factors with mutations in a single gene, there are also polygenic or multifactorial origins without identified genetic mutations, such as SJIA, AOSD, and inflammatory bowel disease (IBD). More than 30 new genes associated with autoinflammatory diseases have been identified since the mutation of Mediterranean fever (MEFV) gene was first discovered as the cause of familial Mediterranean fever (FMF) [ 52 , 53 , 54 ]. The important pathogenic mechanisms have been observed to be driven by mutations in genes involving inflammasome activation or cytokine pathways, including NOD-like receptor pyrin domain-containing protein 3, TNF receptor 1, and IL-1 receptor antagonist [ 55 ].…”

Section: Neutrophils and Nets In Autoinflammatory Diseasesmentioning

confidence: 99%

An Update on the Pathogenic Role of Neutrophils in Systemic Juvenile Idiopathic Arthritis and Adult-Onset Still’s Disease

Kim

Ahn

Jung

et al. 2021

IJMS

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Neutrophils are innate immune phagocytes that play a key role in immune defense against invading pathogens. The main offensive mechanisms of neutrophils are the phagocytosis of pathogens, release of granules, and production of cytokines. The formation of neutrophil extracellular traps (NETs) has been described as a novel defense mechanism in the literature. NETs are a network of fibers assembled from chromatin deoxyribonucleic acid, histones, and neutrophil granule proteins that have the ability to kill pathogens, while they can also cause toxic effects in hosts. Activated neutrophils with NET formation stimulate autoimmune responses related to a wide range of inflammatory autoimmune diseases by exposing autoantigens in susceptible individuals. The association between increased NET formation and autoimmunity was first reported in antineutrophil cytoplasmic antibody-related vasculitis, and the role of NETs in various diseases, including systemic lupus erythematosus, rheumatoid arthritis, and psoriasis, has since been elucidated in research. Herein, we discuss the mechanistic role of neutrophils, including NETs, in the pathogenesis of systemic juvenile idiopathic arthritis (SJIA) and adult-onset Still’s disease (AOSD), and provide their clinical values as biomarkers for monitoring and prognosis.

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Section: Neutrophils and Nets In Autoinflammatory Diseasesmentioning

confidence: 99%

An Update on the Pathogenic Role of Neutrophils in Systemic Juvenile Idiopathic Arthritis and Adult-Onset Still’s Disease

Kim

Ahn

Jung

et al. 2021

IJMS

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“…58 Further, while both entities may cause periosteal elevation and soft tissue edema, the presence of subperiosteal abscess, bony sequestra, intra-osseous or soft tissue abscess, or fistulae is highly suspicious for an infectious process, even in the case of multifocality. 22,59 Lastly, although elevated inflammatory markers can be observed in both entities, the combination of elevated ESR and CRP has a 98% sensitivity for infection. 60 Multifocal Disease (Cases 5 and 6) When a child presents clinically with multifocal bone pain or soft tissue swelling, or when whole-body imaging reveals multifocal or diffuse bony abnormalities, a diagnosis of CRMO should be considered as the leading differential diagnosis.…”

Section: Variable Location Single or Multisite Disease: The Special Case Of Hematogenous Osteomyelitismentioning

confidence: 99%

The Many Faces of Pediatric Chronic Recurrent Multifocal Osteomyelitis (CRMO): A Practical Location‐ and Case‐Based Approach to Differentiate CRMO From Its Mimics

Menashe

Aboughalia

Zhao

et al. 2020

Magnetic Resonance Imaging

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Chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory bone disease of childhood and adolescence characterized by episodic bone pain. Diagnosis relies heavily on whole-body MRI and is made by excluding a wide variety of other disorders with overlapping imaging features, depending on location, marrow distribution, and the presence or absence of multifocality. We present an overview of the clinical and imaging features of CRMO and, through various clinical scenarios, provide tips for tailoring the differential diagnosis based on location and distribution of encountered abnormalities. Level of Evidence: 4 Technical Efficacy Stage: 3

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“…Multifactorial polygenic diseases comprise conditions possessing a clear autoinflammatory aetiology but with no specific monogenic identified cause, in which interactions between gene alterations, environment, and lifestyle contribute to the development of the disease. The disorders included in this group are characterized by nonspecific symptoms that comprise recurrent flares or persistent systemic inflammation, fever, skin manifestations, chest and abdominal pain, lymphadenopathy, and arthritis [21,22] (Figure 1). symptoms that comprise recurrent flares or persistent systemic inflammation, fever, skin manifestations, chest and abdominal pain, lymphadenopathy, and arthritis [21,22] (Figure 1).…”

Section: Autoinflammatory Diseasesmentioning

confidence: 99%

“…The disorders included in this group are characterized by nonspecific symptoms that comprise recurrent flares or persistent systemic inflammation, fever, skin manifestations, chest and abdominal pain, lymphadenopathy, and arthritis [21,22] (Figure 1). symptoms that comprise recurrent flares or persistent systemic inflammation, fever, skin manifestations, chest and abdominal pain, lymphadenopathy, and arthritis [21,22] (Figure 1). Multifactorial polygenic AIDs, more common than the monogenic ones, have recently numerically expanded since an increasingly growing number of novel diseases with genetic or idiopathic origin have been included in this group of disorders.…”

Section: Autoinflammatory Diseasesmentioning

confidence: 99%

Notch Signaling Regulation in Autoinflammatory Diseases

Gratton

Tricarico

D’Adamo

et al. 2020

IJMS

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Notch pathway is a highly conserved intracellular signaling route that modulates a vast variety of cellular processes including proliferation, differentiation, migration, cell fate and death. Recently, the presence of a strict crosstalk between Notch signaling and inflammation has been described, although the precise molecular mechanisms underlying this interplay have not yet been fully unravelled. Disruptions in Notch cascade, due both to direct mutations and/or to an altered regulation in the core components of Notch signaling, might lead to hypo- or hyperactivation of Notch target genes and signaling molecules, ultimately contributing to the onset of autoinflammatory diseases. To date, alterations in Notch signaling have been reported as associated with three autoinflammatory disorders, therefore, suggesting a possible role of Notch in the pathogenesis of the following diseases: hidradenitis suppurativa (HS), Behçet disease (BD), and giant cell arteritis (GCA). In this review, we aim at better characterizing the interplay between Notch and autoinflammatory diseases, trying to identify the role of this signaling route in the context of these disorders.

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Autoinflammatory diseases in childhood, part 2: polygenic syndromes

Cited by 22 publications

References 59 publications

An Update on the Pathogenic Role of Neutrophils in Systemic Juvenile Idiopathic Arthritis and Adult-Onset Still’s Disease

An Update on the Pathogenic Role of Neutrophils in Systemic Juvenile Idiopathic Arthritis and Adult-Onset Still’s Disease

The Many Faces of Pediatric Chronic Recurrent Multifocal Osteomyelitis (CRMO): A Practical Location‐ and Case‐Based Approach to Differentiate CRMO From Its Mimics

Notch Signaling Regulation in Autoinflammatory Diseases

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