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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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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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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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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 ....
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Brainstem Infarction in Immunodeficiency Identified as Adenosine Deaminase 2 Deficiency: Case Report
PurposeWe present the case of a 24-year-old male with CNS granulomatosis due to an immunodeficiency syndrome which was identified as deficiency of...
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Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort
Deficiency of adenosine deaminase-2 (DADA2) is an autosomal recessive autoinflammatory disease with an extremely variable disease presentation. This...
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Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients
PurposeDeficiency of adenosine deaminase 2 (DADA2) is an inherited inborn error of immunity, characterized by autoinflammation (recurrent fever),...
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Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population
Pathogenic variants in LRBA , encoding the LPS Responsive Beige-Like Anchor (LRBA) protein, are responsible for recessive, early-onset...
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Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance
PurposeDeficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder that manifests with fever, early-onset vasculitis, strokes, and...
