PGM3 Deficiency

Known as: Adenosine deaminase 2 deficiency/DADA4

A condition of decreased or absent presence or activity of phosphoglucomutase 3. Deficiency of this protein is associated with immunodeficiency 23.

National Institutes of Health

Papers overview

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2019

donors (Fig 2, A and B). Patients with PGM3, known to cause a severe phenotype, had less expression of gp130 than did those with…