What is the pathophysiology of Lesch-Nyan syndrome?

Where are possible mutation sites that lead to the retained intron in mRNA seen in beta-thalassemia

Lynch syndrome is a failure of ___ during the S phase, leading to microsatellite instability.

What is the pathophysiology of I-cell disease?

What type of collagen is there a defect of in osteogenesis imperfecta due to the inability to form triple helices?

What is the pathophysiology of Menkes disease?

Marfan syndrome is a FBN1 mutation on chromosome

Prader-Willi is due to the ___ allele deleted or mutated.

Marfan syndrome is a FBN1 mutation on chromosome

CF is an AR delta-F508 deletion in CTFR of chromosome ___.

What type of mutation is associated with DMD?

What trinucleotide repeat in the DMPK gene is associated with myotonic dystrophy?

Match the following

Which of the following is a protein malnutrition leading to decreased oncotic pressure resulting in edema as well as decreased apolipoprotein synthesis  leading to liver fatty change?

Which of the following is an aldolase B deficiency leading to accumulation of fructose-1-P resulting on decreased available phosphate, ultimatelyinhibiting glycogenolysis and gluconeogenesis?

Which of the following is a galactose-1P uridyltransfeerase deficiency leading to accumulation of toxic substances (ex. galactitol in eyes)?

Which of the following diseases lack of sorbitol DH leading to intracellular sorbitol accumulation resulting in osmotic damage?

Which of the following is characterized by terminal complement deficiencies leading to failure of MAC formation?

Which of the following is a C1 esterase inhibitor deficiency leads to unregulated activation of kallikrein which leads to increased bradykinin?

Which of the following involves cross-linking of IgE on mast cells resulting in degranulation and release of histamine and tryptase?

Which of the following involves antibodies binding to cell-surface antigens leading to cellular destruction, inflammation, and cellular dysfunction?

Which of the following has Ag-Ab complexes that activate complement to attract neutrophils?

Which of the following is T-cell mediated where CD8+ directly kills target cells and CD4+ release cytokines?

What type of reaction is acute hemolytic transfusion reaction?

What is the pathophys of XLA?

What fails to develop due to DiGeorge syndrome?

What microdeletion is associated with DiGeorge syndrome?

Which of the following is from defective CD40L on Th cells leading to class switch defect?

Which of the following is from LFA-1 integrin/CD18 defect resulting in impaired phagocyte migration and chemotaxis?

Which of the following is from defective LYST mutation leading to microtubule dysfunction resulting in phagosome-lysosome fusion defect?

Which of the following is from NADPH oxidase defect leading to decreased ROS and respiratory burst in neutrophils?

Systemic Candida infection in immunodeficiency is from decreased 

Local Candida infection in immunodeficiency is from decreased 

What type of reaction is graft vs host disease?

Which of the following do people with CGD typically have recurrent infections of?

What ribosome is inactivated by shiga/SLT?

What does tetanus prevent the release of from Renshaw cells?

What is the result of botulism toxin cleaving SNARE?

In gas gangrene, the toxin degrades __ leading to myonecrosis.

Which of the following are released in toxic shock syndrome and scarlet fever from cross-linking of Beta region of TCR to MHC class II on APCs outside of Ag binding site?

Which of the following leads to shock and DIC due to macrophage activation, complement activation, and tissue factor activation?

Staph epidermidis causes infection on prothetic devices due to ___ production.

Endocarditis secondary to ___ leads to dextran production that bind to fibrin-platelet aggregates on damaged heart valves.

What type of reaction is rheumatic fever?