polyarteritis nodosa/adenozin

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A 9.5-year-old boy with recurrent neurological manifestations and severe hypertension, treated initially for polyarteritis nodosa, was subsequently diagnosed with adenosine deaminase type 2 deficiency (DADA2) which responded to anti-TNF-α.

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A 9.5-year-old boy was referred with a 2-year history of recurrent fever, myalgia, abdominal pain and various neurological manifestations associated with increased acute phase reactants and IgG level. During the recent episode, severe hypertension and right-sided hemiparesis developed and

Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders.

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OBJECTIVE A new autoinflammatory disease, deficiency of adenosine deaminase 2 (DADA2), caused by mutations in the CECR1 gene, was first reported in 2014. This review aims to update progress in defining, treating, and understanding this multi-faceted disorder. RESULTS DADA2 was first described in

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

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BACKGROUND Polyarteritis nodosa is a systemic necrotizing vasculitis with a pathogenesis that is poorly understood. We identified six families with multiple cases of systemic and cutaneous polyarteritis nodosa, consistent with autosomal recessive inheritance. In most cases, onset of the disease

Choroidal vascularity index as a biomarker of systemic inflammation in childhood Polyarteritis Nodosa and adenosine deaminase-2 deficiency.

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To assess EDI-OCT (enhanced depth imaging optical coherence tomography) of choroid for inflammatory signs in children with polyarteritis nodosa (PAN) and adenosine deaminase-2 deficiency (DADA-2).In this cross-sectional study conducted between June 2017 and

Polyarteritis nodosa and deficiency of adenosine deaminase 2 - Shared genealogy, generations apart.

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Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis that predominantly affects medium-sized arteries. With the establishment and refinement of vasculitis nomenclature and diagnostic criteria, clinical findings of PAN and distinguishing features from other vasculitides are now well

Diagnosis of deficiency of adenosine deaminase 2 with early onset polyarteritis nodosa in an adult patient with a novel compound heterozygous CECR1 mutation.

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Thirty Years of Followup in 3 Patients with Familial Polyarteritis Nodosa due to Adenosine Deaminase 2 Deficiency.

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A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2.

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OBJECTIVE

Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder associated with ADA2 mutations. We aimed to investigate the characteristics and ADA2 enzyme activities of patients with DADA2 compared to non-DADA2

Identification of Novel Adenosine Deaminase 2 Gene Variants and Varied Clinical Phenotype in Pediatric Vasculitis.

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Individuals with deficiency of adenosine deaminase 2 (DADA2), a recently recognized autosomal recessive disease, present with various systemic vascular and inflammatory manifestations, often with young age at disease onset or with early onset of recurrent strokes. Their clinical

The Many Faces of a Monogenic Autoinflammatory Disease: Adenosine Deaminase 2 Deficiency

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Purpose of review: We aim to describe the pathophysiology, clinical findings, diagnosis, and treatment of deficiency of adenosine deaminase 2 (DADA2). Recent findings: DADA2 is

Cutaneous polyarteritis nodosa successfully treated with topical diflucortolone valerate: a case report & review of the literature.

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Cutaneous Polyarteritis Nodosa (cPAN) was first described in 1931. cPAN is considered a rare disease, its true incidence is unknown. The age of onset is diverse. Most studies have shown no significant gender predominance. cPAN presents with distinct skin findings, such as a maculopapular rash,

A retrospective study comparing the phenotype and outcomes of patients with polyarteritis nodosa between UK and Turkish cohorts.

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There is a need for better definition of polyarteritis nodosa (PAN) subphenotypes and the influence of ethnicity and geography. This study is aimed to study the demographic and clinical features of PAN cohorts from the UK and Turkey (TR) and to compare and contrast disease characteristics. A

A Child Diagnosed With Treatment-Resistant Polyarteritis Nodosa: Can the Clinical Diagnosis Be Different?

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Polyarteritis nodosa (PAN) is a necrotizing systemic vasculitis involving the wall of small and medium sized arteries. The histological aspect is defined by the presence of fibrinoid necrosis and an infiltrate rich in neutrophil polynuclears in the artery wall and rare granulomas. CECR1 (Cat Eye

Renal Amyloidosis in Deficiency of Adenosine Deaminase 2: Successful Experience With Canakinumab.

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Deficiency of adenosine deaminase 2 (DADA2) is a rare autoinflammatory disease that was firstly described in patients with early-onset strokes, livedo reticularis, and periodic fever resembling polyarteritis nodosa. In reported case series, researchers described highly variable manifestations,

Polyarteritis nodosa revisited: a review of historical approaches, subphenotypes and a research agenda.

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Polyarteritis nodosa (PAN) is a rare form of primary systemic vasculitis with heterogeneous presentations, treatments and disease course. Historical approaches to classification and diagnostic terminology are reviewed. Since differentiation of PAN from microscopic polyangiitis (MPA) and other ANCA

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