Autoinflammatory Disorders: A Review and Update on Pathogenesis and Treatment

Havnaer, Annika; Han, George

doi:10.1007/s40257-019-00440-y

Cited by 47 publications

(30 citation statements)

References 301 publications

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“…The symptoms of autoimmune disease and autoinflammatory disorders overlap significantly. Autoinflammatory diseases are characterized by innate immunity abnormalities, usually without infections and without autoantibodies [45][46][47]. Autoimmune disorders are propelled by type I interferon, whereas autoinflammation is distinguished by elevations of inflammasome-induced IL-1β and IL-18; IL-1β and type I IFN counterregulate one another and interfere with adaptive immune responses [45].…”

Section: Biomarkers Of Inflammationmentioning

confidence: 99%

Inflammatory Biomarkers in Postural Orthostatic Tachycardia Syndrome with Elevated G-Protein-Coupled Receptor Autoantibodies

Gunning

Stepkowski

Kramer

et al. 2021

JCM

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A growing body of evidence suggests that postural orthostatic tachycardia syndrome (POTS) may be an autoimmune disorder. We have reported in a previous manuscript that 89% of POTS patients (n = 55) had elevations in G-protein-coupled adrenergic A1 receptor autoantibodies and 53% had elevations in muscarinic acetylcholine M4 receptor autoantibodies, as assessed by ELISA. Patients with autoimmune disorders have been reported with a variety of elevated cytokines and cytokines (such as rheumatoid arthritis); thus, we evaluated a limited number of cytokines/chemokines in POTS patients with elevated adrenergic and muscarinic receptor autoantibodies. We utilized the plasma of 34 patients from a previous study; all of the patients (100%) had autoantibodies against the A1 adrenergic receptor and 55.9% (19/34) had autoantibodies against the M4 muscarinic acetylcholine receptor. In particular, the plasma cytokine/chemokine levels were measured as biomarkers of inflammation by Quantibody® technology (Raybiotech, Peachtree Corners, GA, USA). We also evaluated the platelet dense granule numbers, as these patients frequently complain of symptoms related to platelet dysfunction. Patients were predominantly young females who displayed a multitude of co-morbidities but generally reported viral-like symptoms preceding episodes of syncope. Eighty five percent (29/34) had platelet storage pool deficiency. Patients had elevations in five of ten cytokine/chemokines biomarkers (IL1β, IL21, TNFα, INFγ, and CD30), whereas two biomarkers had decreased levels (CD40L and RANTES). Our observations demonstrate that POTS patients known to have autoantibodies against the G-protein-coupled adrenergic A1 receptor have abnormal plasma concentrations of inflammatory cytokines.

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Section: Biomarkers Of Inflammationmentioning

confidence: 99%

Inflammatory Biomarkers in Postural Orthostatic Tachycardia Syndrome with Elevated G-Protein-Coupled Receptor Autoantibodies

Gunning

Stepkowski

Kramer

et al. 2021

JCM

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“…Contrary to the nomenclature of the disease, 28% of patients do not have elevated immunoglobulin D levels ( 48 ). On the other hand, MA is more severe, characterized by episodes similar to those in mevalonate kinase deficiency-HIDS, but with a chronic disease course ( 56 ). In addition, mental retardation, dysmorphic features, and failure to thrive can be observed rarely in MA ( 57 ).…”

Section: Hyperimmunoglobulin D Syndrome or Mevalonate Kinase Deficienmentioning

confidence: 99%

Autoinflammatory Diseases in Childhood

Yıldız¹,

Haşlak²,

Adroviç³

et al. 2020

Balkan Med J

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Autoinflammatory diseases are characterized by recurrent fevers and clinical findings of impaired natural immunity and can involve various organ systems. The concept of autoinflammatory disease emerged after the definition of familial Mediterranean fever and tumor necrosis factor receptor-associated periodic syndrome. This new disease group was considered to differ from the standard concept of autoimmune diseases, which is relatively better known in terms of basic features, such as defects in innate immunity and the absence of antibodies. A better understanding has been achieved regarding the genetic and pathogenetic mechanisms of this relatively new disease group over the past 20 years since they were first diagnosed, which have led to some changes in the concept of autoinflammatory diseases. The recent definition classifies autoinflammatory disease to be a wide range of diseases with different clinical features, mainly accompanied by changes in innate immune and rarely in humoral immunity. The spectrum of autoinflammatory diseases is rapidly expanding owing to recent developments in molecular sciences and genetics. This review article discusses the clinical features, classification criteria, treatment options, and long-term prognosis of periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome, and other common autoinflammatory diseases in the light of current literature.

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“…Uveitis can occur in isolation, as in the case of the autoimmune disorder sympathetic ophthalmia; or it can also occur in systemic HLA (human leukocyte antigen)-associated arthritic conditions such as sarcoidosis, ankylosing spondylitis, psoriasis, or Behçet’s disease. A number of newly emergent monogenic autoinflammatory diseases, such as cryopyrin-associated period syndromes (CAPS), familial Mediterranean fever, and Blau syndrome 2 , are similarly characterized by inflammation of the skin, joints, and eyes in conjunction with periodic fevers. Many of the mutations associated with these conditions reside in NOD-like receptors (NLRs), which are intracellular innate receptors vital to host defense against infection and toxic substances 3 ; hence, it is thought that such diseases arise from dysfunction in innate immunity.…”

Section: Introductionmentioning

confidence: 99%

T cell-intrinsic role for Nod2 in protection against Th17-mediated uveitis

et al. 2020

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Mutations in nucleotide-binding oligomerization domain-containing protein 2 (NOD2) cause Blau syndrome, an inflammatory disorder characterized by uveitis. The antimicrobial functions of Nod2 are well-established, yet the cellular mechanisms by which dysregulated Nod2 causes uveitis remain unknown. Here, we report a non-conventional, T cell-intrinsic function for Nod2 in suppression of Th17 immunity and experimental uveitis. Reconstitution of lymphopenic hosts with Nod2−/− CD4+ T cells or retina-specific autoreactive CD4+ T cells lacking Nod2 reveals a T cell-autonomous, Rip2-independent mechanism for Nod2 in uveitis. In naive animals, Nod2 operates downstream of TCR ligation to suppress activation of memory CD4+ T cells that associate with an autoreactive-like profile involving IL-17 and Ccr7. Interestingly, CD4+ T cells from two Blau syndrome patients show elevated IL-17 and increased CCR7. Our data define Nod2 as a T cell-intrinsic rheostat of Th17 immunity, and open new avenues for T cell-based therapies for Nod2-associated disorders such as Blau syndrome.

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Autoinflammatory Disorders: A Review and Update on Pathogenesis and Treatment

Cited by 47 publications

References 301 publications

Inflammatory Biomarkers in Postural Orthostatic Tachycardia Syndrome with Elevated G-Protein-Coupled Receptor Autoantibodies

Inflammatory Biomarkers in Postural Orthostatic Tachycardia Syndrome with Elevated G-Protein-Coupled Receptor Autoantibodies

Autoinflammatory Diseases in Childhood

T cell-intrinsic role for Nod2 in protection against Th17-mediated uveitis

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