CBSE High Yield/Mnemonics/Cases (with COMPLETE SOLUTION)
-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 _______ - 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= - 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) - Wiskott Aldrich syndrome (Xlinked) "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= - 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) - Chediak Higashi sy
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