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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
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Antibody response to common human viruses is shaped by genetic factors
Corpus ID: 163156898
donors (Fig 2, A and B). Patients with PGM3, known to cause a severe phenotype, had less expression of gp130 than did those with…
Human hyper-IgE syndrome: singular or plural?
Corpus ID: 51953016
Spectacular progress has been made in the characterization of human hyper-IgE syndrome (HIES) over the last 50 years. HIES is a…
Hyper-IgE syndromes: reviewing PGM3 deficiency
Current opinion in pediatrics
Corpus ID: 24566050
Purpose of review The hyper-IgE syndromes have been recognized as a group of primary immunodeficiencies characterized by eczema…
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