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Getting to know ADA2 deficiency inside and out

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Ten years after the outline of the primary cohorts of sufferers with ADA2 deficiency (DADA2), the pathomechanisms underlying the illness on a mobile degree stay poorly understood. With the institution of the lysosomal localization of the ADA2 protein and its involvement in nucleic acid sensing, the pathophysiological focus has shifted to the within of the cell. On the similar time, extracellular (serum) ADA2 enzyme exercise continues to be the diagnostic gold customary in sufferers with suspected DADA2.

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