Purine nucleotide phosphorylase (PNP) deficiency is an enzyme defect causing intracellular accumulation of purine nucleosides toxic to developing T cells, resulting in severe combined immunodeficiency.
La deficiencia de purina nucleósido fosforilasa (PNP) es un defecto enzimático que causa una acumulación intracelular de nucleósidos de purina tóxicos para las células T en desarrollo, resultando en inmunodeficiencia combinada grave.
Front | An enzyme defect that results in severe combined immunodeficiency. This deficiency causes an intracellular accumulation of purine nucleosides, which are toxic to developing T cells |
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Back | purine nucleotide phosphorylase PNP deficiency |
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