|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
ADA2 deficiency (DADA2, OMIM 615688) is a monogenic autoinflammatory disorder caused by homozygous or compound heterozygous mutations in ADA2, with clinical features including recurrent fever, livedo racemosa, hepatosplenomegaly, and strokes as well as immune dysregulation.
|
31584751 |
2019 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
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 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CECR1 gene are associated with a hereditary form of polyarteritis nodosa, called ADA2-deficiency.
|
29391272 |
2018 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia.
|
29564582 |
2018 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.
|
29951947 |
2018 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders.
|
28983775 |
2017 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.
|
28493328 |
2017 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.
|
28522451 |
2017 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
AlteredExpression
|
disease |
BEFREE |
Subjects with ADA2 deficiency (with or without symptoms) also had lower ADA2 enzyme activity compared to healthy pediatric controls (P < 0.0001) and patients with sporadic (nonfamilial) childhood polyarteritis nodosa (PAN) without CECR1 mutation (P = 0.0108).
|
27059682 |
2016 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters.
|
27252897 |
2016 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases.
|
27059682 |
2016 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.
|
26867732 |
2016 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency.
|
25888558 |
2015 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
Biomarker
|
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 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Early-onset stroke and vasculopathy associated with mutations in ADA2.
|
24552284 |
2014 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Early-onset stroke and vasculopathy associated with mutations in ADA2.
|
24552284 |
2014 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
|
24552285 |
2014 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Early-onset stroke and vasculopathy associated with mutations in ADA2.
|
24552284 |
2014 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
|
24552285 |
2014 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
Early-onset stroke and vasculopathy associated with mutations in ADA2.
|
24552284 |
2014 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
|
24552285 |
2014 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Identification of CECR1 mutations in patients with vasculopathy may lead to earlier diagnosis of ADA2 deficiency.
|
24737293 |
2014 |
|
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Sneddon Syndrome
|
0.710 |
AlteredExpression
|
disease |
BEFREE |
ADA2 activity in plasma and serum IgM concentrations was measured in adult patients within the SnS spectrum, healthy first-degree relatives and HC.
|
30645994 |
2018 |
|
Sneddon Syndrome
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Mutant ADA2 in vasculopathies.
|
25075847 |
2014 |