Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2) (original) (raw)

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A 9.5-year-old boy with recurrent neurological manifestations and severe hypertension, treated initially for polyarteritis nodosa, was subsequently diagnosed with adenosine deaminase type 2 deficiency (DADA2) which responded to anti-TNF-α

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Francisco Arredondo

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Rebecca Buckley

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Louis Shenkman

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Soluble Ecto-5'-nucleotidase (5'-NT), Alkaline Phosphatase, and Adenosine Deaminase (ADA1) Activities in Neonatal Blood Favor Elevated Extracellular Adenosine

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A standardized nomenclature for adenosine deaminases that act on RNA

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