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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

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Antibody response to common human viruses is shaped by genetic factors
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
  • table I
  • table II
Review
2018
Review
2018
Human hyper-IgE syndrome: singular or plural?
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
Hyper-IgE syndromes: reviewing PGM3 deficiency
Purpose of review The hyper-IgE syndromes have been recognized as a group of primary immunodeficiencies characterized by eczema… Expand
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