CBSE High Yield/Mnemonics/Cases 2023 latest solutions

-cerebellar ataxia, telangiectasia’s, and increased risk of sin pulmonary 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 enigmas on the skin, and recent pulmonary infections...Dx= Correct Answer: Ataxia Telangiectasia Pt presents with Thrombocytopenia, Eczema, and Recurrent pyrogenic 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 (Xlinked) "WATER" Wiskott aldrich= thrombocytopenia, eczema, recurrent infections WASp gene mutation, inability to reorganize actin cytoskeleton. lack of antigen presentation.