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Total 3 results found since Jan 2013.
Vasculitis associated with adenosine deaminase 2 deficiency: at the crossroads between Beh çet's disease and autoinflammation. A viewpoint
Reumatismo. 2023 Sep 18;75(3). doi: 10.4081/reumatismo.2023.1578.ABSTRACTAdenosine deaminase 2 deficiency (DADA2) is a rare monogenic vasculopathy caused by loss-of-function homozygous or compound heterozygous mutations in ADA2, formerly CECR1 (cat eye syndrome chromosome region 1) gene. The DADA2 phenotype is widely heterogeneous, and patients may present with fever, weight loss, livedo reticularis/racemosa, digital ischemia, cutaneous ulceration, peripheral neuropathy, abdominal pain, bowel perforation, and portal or nephrogenic hypertension. More specific manifestations include early-onset ischemic or hemorrhagic stroke...
Source: Reumatismo - September 18, 2023 Category: Rheumatology Authors: A Colangelo F Tromby G Cafaro R Gerli E Bartoloni C Perricone Source Type: research
