DADA2 and other Monogenic Vasculitides

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About this Research Topic

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Background

Deficiency of ADA2 (DADA2), described in 2014, has started a new topic in vasculitis as a monogenic cause of the vascular inflammation. Although we were aware of vasculitis as a secondary feature of inherited immuno-deficiencies, DADA2 constitutes a direct cause of inflammation in the medium-size arteries mimicking polyarteritis nodosa. Vasculitis is not the only manifestation of DADA2, since it may –and often does- present with early-onset strokes, hematological abnormalities and immune dysregulation.
DADA2 is also an autoinflammatory disease and has started the chapter of vasculitic autoinflammatory diseases, as well. Subsequently SAVI (STING associated vasculopathy with onset in infancy) also joined this group of monogenic autoinflammatory diseases causing vasculopathy.
There is ongoing research on the pathogenesis of DADA2, which will surely reflect on our knowledge of vascular inflammation.

This issue aims to Increase awareness of monogenic vasculitides by encouraging collaborative efforts in defining recommendations regarding diagnosis and management of DADA2. We invite researchers to submit data on pathogenesis of the vascular inflammation in these diseases. We also hope to increase our understanding of the role of IFN pathway in vascular injury and the pathogenesis of other related manifestations of DADA2.

We welcome articles focusing on, but not limited to, the following areas:

• The pathogenesis of DADA2
• The effect of the ADA2 enzyme on the endothelium, the macrophages and the interferon pathway
• Collaborative, multinational studies aiming to develop recommendations for the diagnosis and management of the disease
• The pathogenesis of SAVI and monogenic immunodeficiencies, such as RAG1 deficiency, associated with vasculitis.
• Utilizing recent advances in genomics techniques to expand our knowledge of related immunodeficiencies
• Genotype-phenotype correlations
• Novel genotypes associated with vasculopathy
• Potential biomarkers for diagnosis, treatment response, and prognosis

Keywords: SAVI, pathogenesis, vasculopathy, diagnosis and management, ADA2 deficiency

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