Periodic fever syndromes and the autoinflammatory diseases (AIDs)

Marino, Achille; Tirelli, Francesca; Giani, Teresa; Cimaz, Rolando

doi:10.1016/j.jtauto.2019.100031

Cited by 17 publications

(17 citation statements)

References 227 publications

(291 reference statements)

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“…Recently, Carapito R. et al reported the case of two sisters with the same mutation (V377I/V377I) but showing different clinical manifestations: one sister was asymptomatic and the other was symptomatic due to the presence of a gain of function mutation of STAT1 gene (c.722G > A-p.Arg241Gln), influencing the phenotype [51]. This finding could provide therapeutic options through inhibition of the JAK/STAT pathway [52].…”

Section: Mevalonate Kinase Deficiency (Mkd)mentioning

confidence: 92%

Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives

Donato¹,

d’Angelo²,

Breda³

et al. 2021

IJMS

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Systemic autoinflammatory diseases are a heterogeneous family of disorders characterized by a dysregulation of the innate immune system, in which sterile inflammation primarily develops through antigen-independent hyperactivation of immune pathways. In most cases, they have a strong genetic background, with mutations in single genes involved in inflammation. Therefore, they can derive from different pathogenic mechanisms at any level, such as dysregulated inflammasome-mediated production of cytokines, intracellular stress, defective regulatory pathways, altered protein folding, enhanced NF-kappaB signalling, ubiquitination disorders, interferon pathway upregulation and complement activation. Since the discover of pathogenic mutations of the pyrin-encoding gene MEFV in Familial Mediterranean Fever, more than 50 monogenic autoinflammatory diseases have been discovered thanks to the advances in genetic sequencing: the advent of new genetic analysis techniques and the discovery of genes involved in autoinflammatory diseases have allowed a better understanding of the underlying innate immunologic pathways and pathogenetic mechanisms, thus opening new perspectives in targeted therapies. Moreover, this field of research has become of great interest, since more than a hundred clinical trials for autoinflammatory diseases are currently active or recently concluded, allowing us to hope for considerable acquisitions for the next few years. General paediatricians need to be aware of the importance of this group of diseases and they should consider autoinflammatory diseases in patients with clinical hallmarks, in order to guide further examinations and refer the patient to a specialist rheumatologist. Here we resume the pathogenesis, clinical aspects and diagnosis of the most important autoinflammatory diseases in children.

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Section: Mevalonate Kinase Deficiency (Mkd)mentioning

confidence: 92%

Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives

Donato¹,

d’Angelo²,

Breda³

et al. 2021

IJMS

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“…Over the last 2 decades due to an increasing awareness and availability of high throughput genetic sequencing techniques, there has been an exponential increase in discovery of genes responsible for SAID ( 2 , 12 , 13 ). Further, molecular insights of these disorders have provided the basis for new therapeutic interventions leading to improved outcomes and long-term survivals.…”

Section: Introductionmentioning

confidence: 99%

“…Systemic autoinflammatory diseases (SAID) are complex inherited disorders caused by defects in several genes regulating innate immune signaling and are characterized by periodic or chronic multisystem sterile inflammation (1)(2)(3).…”

Section: Introductionmentioning

confidence: 99%

Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience

et al. 2021

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Background: Systemic autoinflammatory diseases (SAID) are rare inherited disorders involving genes regulating innate immune signaling and are characterized by periodic or chronic multi-systemic inflammation.Objective: To describe spectrum of clinical, immunological, molecular features, and outcomes of patients with SAID in India.Methods: Request to share data was sent to multiple centers in India that are involved in care and management of patients with Inborn Errors of Immunity. Six centers provided requisite data that were compiled and analyzed.Results: Data on 107 patients with SAID were collated—of these, 29 patients were excluded due to unavailability of complete information. Twelve patients (15%) had type 1 interferonopathies, 21 (26%) had diseases affecting inflammasomes, 30 patients (41%) had non-inflammasome related conditions and 1five patients (19%) had Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA). Type1 interferonopathies identified in the cohort included patients with Deficiency of Adenosine Deaminase 2 (DADA2) (six patients; five families); STING-associated vasculopathy infantile-onset (SAVI) (three patients, one family); Spondyloenchondro-dysplasia with Immune Dysregulation (SPENCD) (two patients). Diseases affecting inflammasomes include Mevalonate Kinase Deficiency (eight patients); Cryopyrin-Associated Periodic Syndromes (CAPS) (seven patients); NLR Family, Pyrin domain-containing 12 (NLRP12) (two patients); Familial Mediterranean fever (FMF) (two patients); Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) (two patients). TNF receptor-associated periodic syndrome (TRAPS) (three patients); A20 haploinsufficiency (four patients); Deficiency of Interleukin 1 Receptor Antagonist (DIRA) (two patients) were categorized as non-inflammasome related conditions. There were significant delays in diagnosis Corticosteroids and other immunosuppressive agents were used for treatment as anti-IL-1 drugs and other biological agents were and still are not available in India. Eight (16.3%) patients had so far succumbed to their illness.Conclusions: This is the first nationwide cohort of patients with SAID from India. Clinical manifestations were diverse. Overlapping of clinical features with other relatively common rheumatological disorders often resulted in delays in diagnosis. More nationwide efforts are needed to enhance awareness of SAID among health care professionals and there is an urgent need to make targeted immunotherapies universally available.

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“…3 Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease, particularly in the Mediterranean. 4 FMF is characterized by recurrent systemic inflammatory attacks with fever and serositis. Periyodik Ateş, Aftöz Stomatit, Farenjit, Servikal Adenit Sendromu (PFAPA), which not known genetic defect still is another SAID wide range of worldwide.…”

Section: Introductionmentioning

confidence: 99%

Rare Autoinflammatory Diseases: A Single Center Experience of 47 Patients

et al. 2021

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Autoinflammatory diseases include a group disease characterized by recurrent systemic inflammatory attacks due to failure in the regulation of the innate immune system. The beginning time of autoinflammatory disease are the most commonly in childhood. Autoinflammatory disease which having different clinical forms are rare, therefore diagnosis is often delayed. To determine the clinical, laboratory and radiological characteristics of children with rare autoinflammatory diseases and in which patients to consider autoinflammatory disease. Forty seven patients diagnosed with rare autoinflammatory diseases between 2010 and 2020 were analyzed retrospectively. Demographic characteristics, clinical courses, laboratory and imaging findings of the patients were recorded. Forty-seven with rare autoinflammatory patients evaluated. Twenty-three patients had Chronic Nonbacterial Osteomyelitis (CNO), seven patients had Mevalonate Kinase Deficiency (MKD), six patients had Blau Syndrome / Early-Onset Sarcoidosis (BS/EOS) Syndrome, three patients had Cryopyrin-associated periodic fever syndrome (CAPS), three patients had Autoinflammatory Vasculitis, one patient had Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome, one patient had Neonatal Onset Pancytopenia, Autoinflammation, Rash and Episodic HLH (NOARCH) syndrome. Three of our patients were being followed up with a diagnosis of undiferantiated systemic autoinflammatory disease (uSAID).Autoinflammatory diseases may have different presentations. Steril and recurrent inflammation should be warning clinicians.

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Periodic fever syndromes and the autoinflammatory diseases (AIDs)

Cited by 17 publications

References 227 publications

Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives

Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives

Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience

Rare Autoinflammatory Diseases: A Single Center Experience of 47 Patients

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