case studies Flashcards
characteristics of IPEX
- rare disease caused by mutations in the Forkhead transcription factor FoxP3 which is essential for the function of regulatory T cells
- uninhibited T cell activation
- common presentations = intractable watery diarrhea (resulting in failure to thrive), dermatitis, and type I diabetes
treatment of IPEX
immunosuppressive therapy- drugs cyclosporin and tacrolimus
- bone marrow transplant from his HLA-matched sister
characteristics of Crohn’s disease
- disorder of mucosal immune dysregulation characterized by inflammatory lesions that can involve entire GI tract, from mouth to anus- systemic inflammatory disease
- inflammatory cell infiltrate is “transmural”
- fistulas and bowel abscesses frequent complications
mutations in what gene increases the risk of Crohn’s
NOD2
NOD2 recognizes component of gram + bacterial cell wall in host cell cytosol
- when mutation, production of antimicrobial peptides is impaired
crohn’s disease and ulcerative colitis are heterogenous diseases characterized by various genetic abnormalities that lead to…
overly aggressive T cell responses to a subset of commensal enteric bacteria
the onset and reactivation of crohn’s disease are triggered by environmental factors that transiently break the ___, stimulate immune responses or alter the balance b/w…
mucosal barrier
beneficial and pathogenic enteric bacteria
contact sensitivity to poison ivy
- most commonly seen DTH response where plants grow wild
- timing of rash matches perfectly with kinetics of DTH response
- caused by a T cell response to a chemical in the leaf- pentadecacatechol
- small, lipid-like molecule penetrates outer layers of skin
- binds to cell surface molecules and alters them , making them targets for uptake, processing and presentation to T cells
- activated Th1 cells are recruited to skin where they recognize the altered self peptides and release damaging inflammatory cytokines
