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Human ADA2 Deficiency: Ten Years Later
Purpose of ReviewIn this review, an update is provided on the current knowledge and pending questions about human adenosine deaminase type 2...
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A Cohort Study on Deficiency of ADA2 from China
PurposeDeficiency of adenosine deaminase 2 (DADA2), an autosomal recessive autoinflammatory disorder caused by biallelic loss-of-function variants in...
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ADA2 regulates inflammation and hematopoietic stem cell emergence via the A2bR pathway in zebrafish
Deficiency of adenosine deaminase 2 (DADA2) is an inborn error of immunity caused by loss-of-function mutations in the adenosine deaminase 2 ( ADA2 )...
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A novel frameshift variant in the ADA2 gene of a patient with a neurological phenotype: a case report
BackgroundAdenosine deaminase 2 (ADA2) deficiency is an inherited autoinflammatory syndrome caused by a defect in the ADA2 gene. Most common...
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A brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2)
IntroductionThe deficiency of ADA2 (DADA2) is a rare autoinflammatory disease provoked by mutations in the ADA2 gene inherited in a recessive...
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Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia
Adenosine deaminase 2 deficiency (DADA2), a rare and potentially fatal systemic autoinflammatory disease, is characterized by low or lack of ADA2...
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Two cases of ADA2 deficiency presenting as childhood polyarteritis nodosa: novel ADA2 variant, atypical CNS manifestations, and literature review
Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease resulting from loss-of-function pathogenic variants in ADA2 gene, which...
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Mechanisms of vascular inflammation in deficiency of adenosine deaminase 2 (DADA2)
Deficiency of adenosine deaminase 2 (DADA2) was first described as a monogenic form of systemic vasculitis that closely resembles polyarteritis...
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Deficiency of Adenosine Deaminase Type 2 (DADA2) Masquerading as GATA-Binding Factor 2 (GATA2) Deficiency
Deficiency of adenosine deaminase type 2 (DADA2) is an autosomal recessive disorder due to loss of function mutation of cat eye syndrome critical... -
A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran
BackgroundDeficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease caused by mutations in the ADA2 gene. DADA2...
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A Narrative Review of the Neurological Manifestations of Human Adenosine Deaminase 2 Deficiency
Deficiency of human adenosine deaminase type 2 (DADA2) is a complex systemic autoinflammatory disorder characterized by vasculopathy, immune...
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Development of EBV Related Diffuse Large B-cell Lymphoma in Deficiency of Adenosine Deaminase 2 with Uncontrolled EBV Infection
Deficiency of Adenosine Deaminase 2 (DADA2) patients presenting with primary immunodeficiency are at risk of uncontrolled EBV infection and secondary...
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ADA2 Deficiency: Case Series of Five Patients with Varying Phenotypes
ObjectiveTo describe the clinical features, genotype, and treatment approaches of patients with confirmed adenosine deaminase 2 (ADA2) deficiency...
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Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency
PurposeDeficiency of adenosine deaminase type 2 (ADA2) (DADA2) is a rare inborn error of immunity caused by deleterious biallelic mutations in ADA2 ....