CBSE High Yield/Mnemonics/Cases Exam Questions with Correct Answers

-Cerebellar ataxia, telangiectasias, and increased risk of sinopulmonary infections = triad of _________. -this is due to a defect in the ________gene responsible for ____________. -immune deficiency manifests as _______ correct answer ataxia telangiectasia Atm gene responsible for dna break repair Iga deficiency Pt presents with unsteady gait, spider like capillary angiomas on the skin, and recent pulmonary infections...dx= correct answer ataxia telangiectasia Pt presents with thrombocytopenia, eczema, and recurrent pygogenic infections. Dx= -mutation in _____gene, leading to inability of platelets and leukocytes to ________. This defect ultimately results in lack of ______(immune function) Correct Answer Wiskott Aldrich syndrome (X-linked) "WATER" Wiskott aldrich= thrombocytopenia, eczema, reccurent infections WASp gene mutation, inability to reorganize actin cytoskeleton. lack of antigen presentation. pt presents with failure to thrive, chronic diarrhea, & thrush. Dx= Correct Answer SCID Pt presents with very white skin and recurrent pyogenic infections with peripheral neuopathy. Dx= Due to defect in ______in the cell, resulting in _____. lab findings(2) Correct Answer Chediak Higashi syndrome defective lysosomal trafficking regulator gene. -- microtubule dysfunction in phagolysosome fusion. -giant cells and pancytopenia Patient has increased susceptibility to Catalase + organisms. Dx= defect in _____ Correct Answer Chronic granulomatous disease. defective NADPH oxidase, decreased ROS (superoxide) produced and decreased respiratory burst in neutrophils. 20 y/o patient presents with signs of liver disease, dystonia, and pigmented corneal rings on eye exam. Dx= Correct Answer Wilson disease (copper accumulation) -corneal rings= Kayer Fleischer rings in descemet membrane