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--- general_pathology:infectious:infectious_diseases_6 [2026/02/28 00:56] – created achamings
+++ general_pathology:infectious:infectious_diseases_6 [2026/02/28 00:57] (current) – achamings
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 PBVD 7th Ed. P189
-An autosomal recessive defect in the hexose monophosphate pathway resulting in a deficiency in NADPH and reduced concentrations of hydrogen peroxide in lysosomes
+An autosomal recessive deficiency in   bone marrow stem cells resulting in accumulation of pyrimidine and purine metabolites and periodic declines in neutrophils every 10-12 days
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