MCB 3020 Lecture Notes - Lecture 41: Ataxia Telangiectasia, Enterococcus, Immunoglobulin G
Document Summary
Mutation in lyst (lysosomal trafficking gene regulator) which causes accumulation of large cytoplasmic granules that cannot fuse with lysosomes. Formation of granulomas to isolate the site of infection. No t cells or nk cells, normal b cells. No t cells, nk cells, or b cells. Btk defect (brutons tyrosine kinase) --> normal t cells, decreased b cells. Atm gene defect which codes for serine/threonine protein kinase involved in dna repair. Low t cells, normal b cells, decrease iga, ige, and igg. Wiskott-aldrich syndrome presents as a triad: eczema, pyogenic infections, thrombocytopenia. Mutations in the wasp gene that is responsible for actin cytoskeleton rearrangement and possible signaling in lymphocytes and platelets. Deficiency of xlp1 causes functional suppression of t cells that renders them incapable of killing ebv-infected b cells. Symptoms: fulminant infectious mononucleosis (ebv), hypogammaglobinemia, lymphoma, hemophagocytic lymphohistiocytosis (too many activated immune cells) =structural analog of paba (para-amino benzoic acid)= a component of folic acid.