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69 Cards in this Set
- Front
- Back
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What disease - BTK gene defect, what type of gene?
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Bruton's agammaglobulinemia - tyrosine kinase gene
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Inheritance pattern of Bruton's agammaglobulinemia
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X-linked recessive
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When does disease start to show up in Bruton's?
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recurrent bacterial infections after 6 months of age - when levels of maternal IgG Ab decline
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3 common causes of SCID
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failure to synthesize MHC II antigens, defective IL-2 receptors, adenosine deaminase deficiency
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What occurs with IL-12 receptor deficiency
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Disseminated mycobacterial infection due to decreased Th1 response and macrophages cannot be activated to form granulomas
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Defect in CD40 ligand on CD4 T helper cells.
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Hyper-IgM syndrome. Inability to class switch. High levels of IgM; very low levels of IgG, IgA, and IgE
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Hyper-IgM syndrome: pathophys
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Defect in CD40 ligand on CD4 T helper cells leading to inability to class switch
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Wiskott-Aldrich syndrome: pathophys
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X-linked defect in ability to mount an IgM response to capsular polysaccharides of bacteria
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X-linked defect in ability to mount an IgM response to capsular polysaccharides of bacteria
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Wiskott-Aldrich syndrome
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Ig levels in Wiskott-Aldrich
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Low IgM. Elevated IgE and IgA
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Pathophys of Job's syndome (Hyper IgE syndrome)
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Failure of IFN-gamma production by Th1; Neutrophils fail to respond to chemotactic stimuli\
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Clinical presentation of Job's syndrome
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coarse Facies, cold (noninflammed) staph Abscesses, retained primary Teeth, Inc IgE, and Dermatologic problems (eczema) (FATED)
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Triad of symptoms associated with Wiskoff Aldrich syndrome
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pyogenic infections, thrombocytopenic purpura, eczema (WIPE)
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Pathophys of Leukocyte adhesion deficiency syndrome (type I)
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Defect in LFA-1 integrin (CD18) proteins on phagocytes.
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Presents early with recurrent bacterial infections, absent pus formation, neutrophilia, and delayed separation of umbilicus
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Leukocyte adhesion deficiency syndrome (type 1)
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Recurrent pyogenic infections by staph and strept, partial albinism, and peripheral neuropathy
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Chediak-Higashi syndrome
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Pathophys of Chediak-Higashi syndrome
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Autosomal recessive. Defect in microtubular fx and lysosomal emptying of phagocytic cells
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Pathophys of Chronic Granulomatous disease
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Defect in microbicidal activity of neutrophils owing to lack of NADPH oxidase activity or similar enzymes.
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Chronic granulomatous disease presentation
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Marked susceptibility to opportunistic infections with bacteria: esp S. aureus and E.coli as well as Aspergillus
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Dx of chronic granulomatous disease confirmed how?
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NEGATIVE nitroblue tetrazolium dye reduction test
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Pathophys of chronic mucocutaneous candidiasis
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Idiopathic dysfx of T cells. T cell dysfx especially against Candida albicans. Presents with skin and mucous membrane Candida infectins
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Most common selective Ig deficiency
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IgA deficiency
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Presentation of selective IgA deficiency
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Sinus and lung infections; milk allergies and diarrhea common. Anaphylaxis upon exposure to blood products containing IgA
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Pathophys of ataxia-telangiectasia
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Mutation in ATM gene which codes for a protein kinase inovlved in signaling pathways for DNA repair enzymes. Asocciated with IgA deficiency.
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Cerebellar problems, spider angiomas, associated with IgA deficiency
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Ataxia-telangiectasia
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Pathophys of common variable immunodeficiency (CVID)
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Normal numbers of circulating B cells, decreased plasma cells (defect in B-cell maturation), decreased Ig, can be acuired in 20s -30s.
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What does common variable immunodeficiency put one at an increased risk of
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Autioimmune disease and lymphoma
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Antihistone Ab
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Drug induced lupus
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Antiendomysial Ab
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Celiac disease
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Anti-desmoglein Ab
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Pemphigus vulgaris
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Anti-Jo-1 Ab
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Polymositis, dermatomyositis
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Autoantibody of Celiac disease
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Antigliadin, antiendomysial
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Antibody assoc with Pemphigus vulgaris
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Anti-desmoglein
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Antibody associated with polymyositis and dermatomyositis
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Anti-Jo1-1
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Autoantibody assoc with mixed connective tissue disease
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Anti-U1 RNP (ribonucleoprotein)
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Anti-smooth muscle
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Autoimmune hepatitis
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Ab assoc with autoimmune hepatitis
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Anti-smooth muscle
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Anti-glutamate decarboxylase: disease
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Type 1 DM
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Disease assoc with HLA-A3
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Hemochromatosis
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HLA subtype: hemochromatosis
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HLA-A3
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4 disease: HLA-B27
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Psoriasis, Ankylosing spondylitis, Inflammatory bowel disease, Reiter's syndrome
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HLA-DR2 - 4 disease
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MS, hay fever, SLE, Goodpasture's
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HLA-DR3 - 2 disease
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DM type 1, Graves
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HLA-DR4: 2 disease
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DM type 1, RA
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HLA-DR5: 2 disease
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Pernicious anemia, Hashimoto's thyroiditis
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HLA-DR7: 1 disease
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Steroid responsive nephrotic syndrome (minimal change)
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Anticentromere Ab
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Scleroderma (CREST)
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Difference between hyperacute and acute rejection of transplant
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Hyperacute: ab mediated due to preformed antidonor Ab - within minutes. Acute : cell mediated due to cytotoxic T lymphocytes - weeks after transplantation
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Pathophys of chronic rejection of transplant
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T cell and Ab mediated vascular damage (obliterative vascular fibrosis) occurs months to years after transplantation. irreversible. Class I-MHC non self is perceived by CTLs as class I-MHC self presenting a non-self Ag
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Maculopapular rash, jaundice, hepatosplenomegaly, and diarrhea after transplant procedure
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Graft-versus-host disease
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Toxicity of cyclosporine
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Predisposes patients to viral infections and lymphoma; nephrotoxic (preventable with mannitol diuresis)
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Mechanism of cyclosporine
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Binds to cyclophilins. Complex blocks differentiation and activation of T cells by inhibiting calcineurin, cytoplasmic phosphatase necessary for activation of T cell specific transcription factor: NF-AT which is involved in production of IL-2 and its receptor
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Mechanism of Tacrolimus (FK506)
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Similar to cyclosporine; binds to FK-binding protein, inhibiting calcineurin.
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Toxicities of Tacrolimus
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Significant toxicity - nephrotoxicity, peripheral neuropathy, HTN, pleural effusion, hyperglycemia
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Azathioprine: mechanism
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Precursor to 6-mercaptopurine / PURINE ANALOG that interfers with metabolism and synthesis of nucleic acids. Toxic to proliferating lymphocytes.
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toxicity of Azathioprine
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Bone marrow suppression. Mercaptopurine is metabolized by xanthine oxidase so allopurinol increases toxic effects
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Mechanism of Muromonab-CD3 (OKT3)
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Monoclonal antibody that binds to CD3 on surface of T cells blocking interaction with CD3 protein that is responsible for T cell signal transduction
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Toxicities of Muromonab-CD3
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Cytokine release syndrome (Abs bind to T cell receptor and activate T cells before they are destroyed), hypersensitivity rxn
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Mechanism of Sirolimus
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Binds to mTOR (mammalian target of rapamycin) that inhibits T cell proliferation in response to IL-2
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3 toxicities of Sirolimus
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Hyperlipidemia, thrombocytopenia, leukopenia
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Mechanism of Mycophenolate mofetil
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Inhibits de novo guanine synthesis and blocks lymphocyte production
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Mechanism of Daclizumab
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Monoclonal Ab with high affinity for IL-2 receptor on activated T cells
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Aldesleukin: what is it?
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IL-2 recombinant ck, used for Renal cell carcinoma, metastatic melanoma
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What 2 agents are used for recovery of bone marrow - granulocytes
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Filgrastim (G-CSF) and Sargramostim (GM-CSF)
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IFN-a is used for what five diseases
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Hep B and C, Kaposi's sarcoma, leukemias, malignant melanoma
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IFN-b is used for what disease
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Multiple sclerosis
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IFN-gamma is used for what 2 disease
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Chronic granulomatous disease or IL-12 receptor deficiency
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What is used for thrombocytopenia?
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Oprelevekin (IL-11, megakaryocyte GF)
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Oprelevkin: what is it?
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IL-11 - megakaryocyte growth factor used for thrombocytopenia
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