Diseases Flashcards

Question

Hyper IgM syndrome

Answer 1

Most commonly due to defective CD40L on TH cells leading to class switching defect X linked receessive-Boys Presentation: severe pyogenic infections early in life, opportunistic infection with pneumocystis, Cryptosporidium, CMV Recurrent sinus and airway infections-decreased IgA Findings: increased IgM, decreased IgG, IgA, and IgE Treatment: IV gamma globulin

Answer 2

Mutation in WAS gene T cells unable to reorganize actin cytoskeleton X linked recessive-Boys Presentation: Thrombocytopenic purpura (bleeding, petechiae, hematemesis), Eczema, recurrent infections Increased risk of autoimmune disease and malignancy Findings: decreased to normal IgG and IgM Increased IgE and IgA (WEskott Aldrich) Fewer and smaller platelets Encapsulated and opportunistic organisms

Answer 3

Defect in LFA-1 integrin (CD18) on phagocytes Impaired migration and chemotaxis AR ``` Presentation: recurrent bacteria skin and mucosal infections Absent pus formation Impaired wound healing Delayed separation of umbilical cord Gingivitis and peridontitis ``` Findings: increased neutrophils but absence at infection sites Inability to synthesize beta-2 integrins-Mac1 and LFA affecting tight adhesion, crawling and transmigration

Answer 4

Defect in lysosomal trafficking gene Microtubule dysfunction in phagosome-lysosome fusion AR ``` Presentation: recurrent pyogenic infections by staphylococci and streptococci Partial albinism Peripheral neuropathy Progressive neurodegeneration Inflitrative lymphohistocytosis Nystagmus ``` Findings: giant granules in neutorphils and platelets Pancytopenia Mild coagulation defects abnormal melanin storage in melanocytes-albinism

Answer 5

Defect of NADPH oxidase leading to decreased reactive oxygen species Absent respiratory burst in neutrophils Decrease activation of granule proteases Increased susceptibility to catalase + organisms which can destroy own H202 production by metabolism Recurrent infections: pneumonia, skin and organ abscesses, suppurative adenitis, and osteomyelitis Diffuse granuloma formation Findings: abnormal dihydrohodamine (flow cytometry test)-no fluorescence=CGD Nitroblue tetrazolium blue test-no blue (yellow is normal)

Answer 6

Within minutes Pre-existing recipient Abs react to donor Ag (type II hypersensitivity) and activate complement Widespread thrombosis of graft vessels leading to ischemia and necrosis-becomes cyanotic and mottled Fibrinoid necrosis and thrombotic occlusion Graft must be removed

Answer 7

Weeks to months Mediated by host T cell lymphocyte sensitization against graft MHC Ags Generally asymptomatic but can develop fevers, chills, malaise and arthralgias Increased creatinine, hypertension, decreased urine output Neutrophilic inflitrate with necrotizing vasculitis Cellular: CTLs activated against donor MHCs Humoral: Abs develop after transplant Vasculitis of graft vessels with dense interstitial lymphocytic inflitrate (cell mediated) Prevent/reverse with calcineurin inhibitors or corticosteroids

Answer 8

Months to years FIBROSIS-collagen in vessels Recipient T cells perceive donor MHC as recipient MHC and react against donor Ags presented Both cellular and humoral components Scant inflammatory cells and interstitial fibrosis Parenchyma atrophy Vascular wall thickening and luminal narrowing Organ specific: Kidney: Worsening hypertension, increased creatinine, proteinuria Vascular fibrosis, glomerulopathy Heart: atherosclerosis Lungs: bronchiolitis obliterans-fibrotic obstruction, fibropurlen exudate and granulation tissue, replaced by CT Liver: vanishing bile ducts Irreversible

Answer 9

Bone marrow and liver transplants Grafted immunocompetent T cells proliferate in the immunocompromised host and reject host cells with "foreign" proteins-severe organ dysfunction CD4 and CD8 cells destroy tissue Maculopapular rash, jaundice, diarrhea, hepatosplenomegaly

Answer 10

Caused by mycobacterium leprae-Acid fast Likes cool temperatures-infects skin and superficial nerves- invades Scwann cells Testicular destruction and blindness, paresis and regional anesthesia Resevoir: Armadillos Lepramatous: presents diffusely over the skin with lion like facies Communicable by low cell mediated immunity with humoral Th2 response -lepromin test Increased bacteria load within macrophages Tuberculoid: Limited to few hairless skin plaques Characterized by high cell mediated immunity with a largely Th1 response + lepromin test-indurated nodule Treatment: dapsone and rifampin for 6 months for tuberculoid Dapsone, rifampin and clofazamine for 2-5 years for lepoamtions

Diseases Flashcards

(34 cards)