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8 Cards in this Set

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What is the molecular defect in GCD?
Deficiency of NADPH Oxidase - failure to denergate superoxide anion and other O2 radicales
What are the Sx of CGD?
Recurrent ingection with Catalase + organisms i.e Staph, Klebseilla, Aspergillus, Candida, Serratia.
How is the Dx of CGD made?
Negative Nitroblue Tetrazolium blue reduction test
What is the Molecular defect of Chediak-Higashi Syndrome
Granule structural defect - defect in mircotuble fxn and lysosomal emptying. AR
Sx of Chediack-Higashi Syndrome?
Recurrent infection with Staph and Strep, partial albinism, peripheral neuropathy, absent NK activity
What is the molecular defect in G6PD deficinecy?
G6PD in the Pentose Phosphate pathway - Does not produce NADPH which is needed in RBCs to reduce oxidized Glutathione. If not, H2O2 radicals will cause injury to the RBC membrane
What is the Molecular defect in Leukocyte Adhesion Deficiency
Absence of CD18 component of the LFA-1 integrin on the phagocytic cell leading to impaired leukocyted adhesion-dependent migration into the tissue
Sx of Leukocyte Adhesion Deficiency?
Recurrent bacterial and fungal infection, No abscess formation or pus, High PMNs in circulation, Delayed seperation of the umbilicus