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ALLMedicine™ Adenosine Deaminase 2 Deficiency Center

Research & Reviews  14 results

Two Cases Presenting With Unilateral Adduction Deficit Associated With Human Adenosine ...
https://doi.org/10.3928/01913913-20210416-02
Journal of Pediatric Ophthalmology and Strabismus; Veryser E, Meyts I et. al.

Jul 22nd, 2021 - Deficiency of human adenosine deaminase 2 (DADA2) is an auto-inflammatory inborn error of immunity caused by biallelic deleterious mutations in the gene encoding ADA2. The purpose of this article is to raise awareness among ophthalmologists and pe...

Adenosine Deaminase 2 deficiency
https://rarediseases.info.nih.gov/diseases/12383/adenosine-deaminase-2-deficiency

Mar 29th, 2021 - Adenosine Deaminase 2 deficiency (ADA2 deficiency) causes swelling of the blood vessels (vasculitis), leading to decreased blood flow affecting the organs and skin. Though the severity and age of onset can vary, most people with ADA2 deficiency be...

Diagnosis and management of adenosine deaminase 2 deficiency children: the experience f...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7986504
Pediatric Rheumatology Online Journal; Wang W, Zhang T et. al.

Mar 25th, 2021 - Deficiency of adenosine deaminase 2 (DADA2) is a rare autoinflammatory disease caused by mutations in the ADA2 gene. Few Chinese cases have been reported. We describe and compare the clinical features, genotypes, and treatments of Chinese DADA2 pa...

Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8115359
AJNR. American Journal of Neuroradiology; Geraldo AF, Caorsi R et. al.

Feb 27th, 2021 - Adenosine deaminase 2 deficiency (OMIM #615688) is an autosomal recessive disorder characterized by a wide clinical spectrum, including small- and medium-sized vessel vasculopathies, but data focusing on the associated neuroimaging features are st...

Detailed analysis of Japanese patients with adenosine deaminase 2 deficiency reveals ch...
https://doi.org/10.1016/j.jaci.2021.01.018
The Journal of Allergy and Clinical Immunology; Nihira H, Izawa K et. al.

Feb 3rd, 2021 - Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive inflammatory disease caused by loss-of-function mutations in both alleles of the ADA2 gene. Most patients with DADA2 exhibit systemic vasculopathy consistent with polyarteritis ...

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