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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
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… Expand
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  • table II
Review
2018
Review
2018
Spectacular progress has been made in the characterization of human hyper-IgE syndrome (HIES) over the last 50 years. HIES is a… Expand
  • table 1
Review
2014
Review
2014
Purpose of review The hyper-IgE syndromes have been recognized as a group of primary immunodeficiencies characterized by eczema… Expand