ADA2, adenosine deaminase 2, 51816

N. diseases: 165; N. variants: 22
Disease: Vasculitis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.200 Biomarker disease BEFREE A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2. 31599797 2020
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.200 GeneticVariation disease BEFREE The coding exons of ADA2 were sequenced in 60 children and adolescents with a diagnosis of PAN, cutaneous PAN, or unclassifiable vasculitis (UCV), any chronic vasculitis with onset at age 5 years or younger, or history of stroke. 31008556 2019
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.200 GeneticVariation disease BEFREE Human adenosine deaminase type 2 deficiency (DADA2), due to biallelic deleterious mutations in the ADA2 gene, is the first described monogenic type of small- and medium-size vessel vasculitis. 30565235 2019
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.200 Biomarker disease BEFREE Reduction of adenosine deaminase 2 (ADA2) activity due to autosomal-recessive loss-of-function mutations in the <i>ADA2</i> gene (previously known as <i>CECR1</i>) results in a systemic vasculitis known as deficiency of ADA2 (DADA2). 31015188 2019
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.200 Biomarker disease BEFREE Until the diagnosis of DADA2 was confirmed, five patients have been followed-up with the diagnosis of PAN: two patients both with PAN and FMF, and one patient with CAPS and vasculitis. 28516235 2018
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.200 Biomarker disease BEFREE Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis. 29271561 2018
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.200 GeneticVariation disease BEFREE Deficiency of adenosine deaminase 2 (ADA2) due to homozygous or compound heterozygous mutations in the cat eye syndrome chromosome region, candidate 1 (<i>CECR1</i>) gene causes an autoimmune phenotype with systemic vasculitis affecting the skin, inner organs, and the central nervous system. 28024309 2017
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.200 GeneticVariation disease BEFREE In childhood, beside inflammation lanced by ischemia itself, the event of ischemia might be provoked by an underlying inflammatory pathophysiology: transient focal arteriopathy, dissection, sickle cell anemia, Moyamoya and more generalized in meningitides, generalized vasculitis or genetic arteriopathies (as in ADA2). 29103427 2017
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.200 Biomarker disease BEFREE We sought to investigate the mechanisms of chronic inflammation and vasculitis in a child lacking IL-17RA and ADA2 to identify therapeutic targets. 26607704 2016
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.200 AlteredExpression disease BEFREE These associations include ERAP1, CCR1-CCR3, STAT4, KLRC4, GIMAP4, and TNFAIP3 in Behçet's disease; BLK and CD40 in Kawasaki disease; SERPINA1 and SEMA6A in antineutrophil cytoplasmic antibody associated vasculitides; IL12B and FCGR2A/ FCGR2A in Takayasu arteritis; and CECR1 in a newly defined vascular inflammatory syndrome associated with adenosine deaminase (ADA2) deficiency. 25405820 2015
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.200 GeneticVariation disease BEFREE Loss-of-function mutations in CECR1 were associated with a spectrum of vascular and inflammatory phenotypes, ranging from early-onset recurrent stroke to systemic vasculopathy or vasculitis. 24552284 2014
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.200 Biomarker disease HPO