Abstract Deficiency of ADA2 (DADA2) is the first molecularly described monogenic vasculitis
syndrome. DADA2 is caused by biallelic hypomorphic mutations in the ADA2 gene that …

Objective To prepare a dermatologic addendum to the 2012 revised International Chapel
Hill Consensus Conference Nomenclature of Vasculitides (CHCC 2012) to address …

Objectives To analyse the prevalence of CECR1 mutations in patients diagnosed with early
onset livedo reticularis and/or haemorrhagic/ischaemic strokes in the context of inflammation …

Adenosine Deaminase 2 Deficiency and TNF Inhibition The manifestations of a deficiency of
adenosine deaminase 2, a genetic disease, include early-onset lacunar stroke. In a series of …

Background Deficiency of adenosine deaminase 2 (DADA2) is a syndrome with pleiotropic
manifestations including vasculitis and hematologic compromise. A systematic definition of …

The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited
disease that has undergone extensive phenotypic expansion since being first described in …

Deficiency of adenosine deaminase 2 (DADA2) is a monogenic disease caused by biallelic
mutations in ADA2 gene (previously CECR1). The aim of this review was to describe the …

Periodic fever syndromes are autoinflammatory diseases. The majority present in infancy or
childhood and are characterised by recurrent episodes of fever and systemic inflammation …

Importance Deficiency of adenosine deaminase 2 (DADA2) is a recessively inherited
disease characterized by systemic vasculitis, early-onset stroke, bone marrow failure, and/or …

Objective We aimed to test the relevance of deficiency of adenosine deaminase 2 (DADA2)
in patients with antibody deficiency and describe the clinical picture of the disease in …