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50 Cards in this Set
- Front
- Back
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C3 Deficiency
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Component def, susceptible to pyogenic infection, fatal in early life
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C4 or C2 Defeciency
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Component def, High risk of developing immune complex diseases like SLE
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C9 Deficiency
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Component def, Susceptible to pyogenic infection like Neisseria meningitis
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Factor B, C2 deficiency
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C2 Most common but asymptomatic
Factor B def never found in humans |
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Deficiency of Factor D, I, properdin, C5-C9....
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All confer recurrent meningococcemia by Neisseria
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(C1 INH) C1 esterase inhibitor deficiency
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controller deficiency, autosomal dominant hereditary angio neurotic edema (HANE), localized edema in airway, intestine and skin
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GPI (glycosyl phophatidyl inositol protein family) deficiency
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controller deficiency, Includes DAF, CD59, causes spontaneous lysis of RBC, platelets, granulocytes, include anemia, thrombocytopenia, chronic infection
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PNH (paroxysmal nocturnal hemoglubinuria)
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caused by somatic DNA mutation in proteins essential for GPI controller deficiency, production in myeloid stem cells, chronic intravascular hemolysis in kidney at night, these mutations are not heritable
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Leukocyte adhesion deficiency
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phagocyte def, recessive, defect in beta subunit of integrins, affects WBC migration, high WBC, no pus formation, NO EFFECTIVE WOUND HEALING, delayed umbilical cord separation, no classical infection signs
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Chronic Granulomatous Disease
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Phagocyte def, X linked and auto recessive, defect in respiratory burst affects killing, susceptible to low virulence bacteria, widespread granulomas which obstruct stomach, esophagus or bladder
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Chediak Higashi Syndrome
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Phagocyte def, recessive, defect in vesicle fusion affects degranulation and killing, abnormal giant granules and organelles in cells, recurrent infection by pyogenic organisms, neutropenia and white cells in liver, spleen and LN
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IFN-gamma Receptor Deficiency
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Phagocyte def, mutation causes unresponsiveness of MACROPHAGES to IFN-gamma, susceptible to weakly pathogenic mycobacteria, DANGEROUS! to receive BCG immunizations
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DiGeorge Syndrome
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T cell def, lack of thymus and parathyroids during development, no mature T cells and impaired B cell function, recurrent chronic infection with all microbes, live attenuated viral vaccines can be fatal, tend to improve with age, thymus transplant might work
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ALPS - autoimmune lymphoproliferative syndrome
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T cell def, some dominant Fas mutation, defective in Fas or FasL or caspase 10, increasing number of CD4-CD8- T cells, susceptible to chronic viral infection, prone to develop B cell lymphoma
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Chronic mucocutaneous candidiasis
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T cell def, more children, lack of T subset specific for Candida infection, normal B cell function and most T cell function,
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Hyper-IgE Syndrome (Job-Buckley)
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Fails to produce IFN-gamma by Th1, thus more Th2 and IgE, recurrent 'cold' abscesses (staph), eczema (candida), skeletal effects (double sets of teeth)
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Hyper IgM Syndrome
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Mutations in CD40L, recurrent respiratory infection at 12 yrs old, defect in B cell class switch due to CD40 mutation, normal B and T cell function in vitro, very low IgG, IgA, IgE and elevated IgM, recurrent pyogenic bacterial infections,
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XLA - X -linked Infantile Agammaglobulinemia
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Mutation in BTK blocks maturation from preB cell, virtual absence of B cells and very low Ig, recurrent infection of pyogenic bacteria of polysaccharide capsules like influenze and pneumoniae, susceptible to GI infections
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IgA deficiency
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most common in Ig def, unidentified mutations in class switch, recurrent sinus and lung infections (epithelium)
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T-B+: xlinked
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most common SCID, caused by mutation of the common gamma chain for cytokine receptors for 2,4,7,9,15, no T cell, normal B cell number but no function, needs bone marrow transplant
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T-B+: autosomal SCID
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recessive, rare, caused by mutation of JAK3 tyrosine kinase, mediates signaling downstream from gammaC receptor
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ADA deficient SCID
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T-B- recessive, housekeeping enzyme involved in purine salvage pathway, causes accumulation of toxic waste and impairs B and T cell development w/skelatal issues, gene therapy was first attempted in ADD patients, enzyme supplement is an option
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PNP Purine nucleoside phosphorylase Deficient SCID
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T-B-, purine savalge pathway, toxic waste accumulates and causes damage to neuro systems and all lymphoid tissues, are depleted eventually, high incidence of autoimmune disease
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Rag-deficient SCID
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T-B- RAG - recombinant activating gene encodes enzymes for BCR and TCR rearrangement, mutations of RAG1 or RAG2 cause absence of B and T cells, NK cell and function is normal
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Omenn Syndrome, BMT recommended?
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T+B-, Partial SCID with reduced RAG activity affecting only B cell development, skin and GI infiltration of eosinophils and Th2 cells, hyper IgE syndrome and malnutrition, bone marrow transplant is NOT recommended due to high graft rejections
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T+B+ BLS SCID - Bare Lymphocyte Syndrome
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Caused by lack of HLA expression, no MHC 1 or 2, mutation occurs in transcription regulator essential for MHC 2 expression, normal B and T cellsin circulation, with reverse CD4:CD8 ratio (more CD8), recurrent bacteria pneumonia rather than viral infection
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ZAP 70 Mutation/Defect
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SCID like multisystem disorder, recessive, CD8 T cells are missing, defective T cell function and impaired B cell function, normal T cell numbers in peripheral lymphoid tissues,
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Wiskott-Aldrich Syndrome
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SCID like multisystem disorder, xlinked, mutations in WASP/syndrome protein that exist in all blood stem cells and bind to adapters and probably cytoskeleton components, reduced T cell numbers and abnormal B and T cell function, bleed diathesis (thrombocytopenia), small size of platelets,recurrent bacterial infection, allergic reaction, short life span, bone marrow transplant can be helpful
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Ataxia Telangiectasia
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Multi system SCID like disorder, staggering gait, spider veins, caused by autosomal recessive mutation of ATM, a protein involved in DNA repair in all cells, prone to develop cancer
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Treatment and therapy for SCID
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bone marrow transplantation, gene replacement therapy (ADA) and enzyme replacement therapy (ADA deficiency)
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Mancini Radial
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Immuno diffusion, protein concentration
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Ouchterlony
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Immuno diffusion, protein identity
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Immuno Electrophoresis
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by size and charge, Ig deficiency
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Dirrect Agglut
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ABO blood typing
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Passive Agglut
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detect soluble antigens
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Agglut Inhibition
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Soluble antigen detection
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Elisa
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enzyme linked antibodies, Antibody/Antigen detection and relationship
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Immuno flouresence
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Tissues and Cells
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FACS
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flourensence and vibrator, T cell subsets
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Elispot
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enzyme linked anticytokine antibodies, cytokines
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Name four tumor antigens and what disease they indicate
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mutated self protein (carcinogen induced animal tumors)
product of oncogene or mutated tuomor suppressor gene (oncogene produces, mutated Ras, Bcr, p53) Overexpressed self protein (tyrosinase, cancer testis antigens) Oncogenis virus (human papillomavirus, E6, E7) |
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Most important tumor response?
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CTL through cross presentation, DC phagocytoses tumor cell
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Tumor evasion? 3
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lack of targets, lack of proper induction of immune responses, lack of host reaction due to suppression or inhibition
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western blot
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protein identification
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SLE systemic lupus erythematosus
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detect ANA antibodies, type 3 response
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rheumatoid arthritis
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type 4, antibodies against IgG, look for RF factor
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celiac sprue
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type 4, against ttg tissue transglutaminase
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arthus reaction
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type 3, same injection everytime
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serum sickness
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type 3, systemic issues
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TB test result
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type 4 hypersens,
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