Term
| Deficiency in C1, C2, and C4 leads to.. |
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Definition
| immune complex disease. This leads to deposition of immune complexes in the tissue causing local inflammation, increased fluid and protein release, phagocytosis, and blood vessel occlusion |
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Term
| How are immune complexes normally removed from the body? |
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Definition
| CR1 on an erythrocyte surface bind to C3b-tagged immune complex. The RBC then carries immune complex to liver or spleen where it is detached and taken up by a macrophage |
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Term
| How do factors I and H downregulate C3 activation? |
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Definition
| Factor H displaces factor B from C3bB (before B can be cleaved by factor D creating C3bBb, a C3 convertase) which enables the cleavage of C3b to iC3b by factor I. |
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Term
| What are the effects of factor I deficiency? |
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Definition
| low to no C3 in the blood |
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Term
| Deficiency to proteins late in the complement pathway leads to increased susceptibility to infections by... |
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Definition
| Neisseria (N. gonorrhoeae, N. Meningitidis) |
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Term
| How many C9 molecules does it take to form a membrane attack complex? |
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Definition
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Term
| Hereditary angioneurotic edema (HANE) is due to a deficiency in.. |
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Definition
|
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Term
| What are the effects of defeciency in Factor D and properdin? |
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Definition
| susceptibility to capsulated bacteria and Neisseria but no immune-complex disease |
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Term
| Laukocyte adhesion deficiency is due to a lack of... |
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Definition
| beta subunit of integrins and CR3 deficiency |
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Term
| What is the effect of leukocyte adhesion deficiency on the CBC? |
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Definition
| abnormally high WBC count because cells can't emigrate from blood to tissues |
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Term
| What effects do a lack of CR3 have? |
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Definition
| resident phagocytes can't take up pyogenic bacteria |
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Term
| In order to kill pathogens, neutrophils store toxic substances in ___________ while macrophages store them in _________. |
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Definition
| cytoplasmic granules; lysosomes |
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Term
| T/F A cationic protein is considered an antimicrobial peptide. |
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Definition
|
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Term
| What kinds of "comptetitors" does the human body make to kill bacteria? |
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Definition
| bacteria need Fe and B12 so the body makes lactoferrin to bind Fe and there is also a vitamin B12 binding protein |
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Term
| NADPH oxidase converts what into what? |
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Definition
|
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Term
| Superoxide dismutase converts what into what? |
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Definition
| superoxide to hydrogen peroxide |
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Term
| Lack of NADPH oxidase results in which disease? |
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Definition
| chronic granulomatous disease |
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Term
| What types of pathogens are patients with CGD susceptible to? |
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Definition
| respiratory and intracellular |
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Term
| Patients with IFN-gamma receptor deficiency are susceptible to what types of pathogen? |
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Definition
| intracellular (like mycobacteria) because macrophages can't be stimulated by IFNgamma to kill intracellular bacteria |
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Term
| What are the types of interferon gamma receptor deficiency? |
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Definition
| can be homozygous recessive with no receptor signaling or heterozygous dominant with partial receptor signaling |
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Term
| IL-12 receptor deficiency results in... |
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Definition
| affects both innate and adaptive responses. Causes susceptibility to repeated infections with intracellular bacteria, especially environmental mycobacteria |
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Term
| Which transcription factor is the "master switch" controlling inflammation? |
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Definition
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Term
| What deficiency causes X-linked hypohydrotic ectodermal dysplasia? |
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Definition
| NEMO deficiency. (NEMO activates NFKB) |
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Term
| Deficiency in NFKB leads to susceptibility to what kind of infections? Why? |
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Definition
| bacterial. THis is because NFKB is required for pro-inflammatory cytokine production by macrophages when bacterial products are recognized by PRRs on macrophages. NFKB is also required for B cell activation by T cells via production of IL-4, 5, and 6 |
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Term
| What gene is affected in X linked agammaglobulinemia? |
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Definition
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Term
| X linked agammaglobulinemia results in... |
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Definition
| no B cells or antibodies. Over-stimulation of phagocytes with repeated infection can lead to tissue damage |
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Term
| Patients with XLA are treated with.. |
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Definition
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Term
| XLA patients are susceptible to... |
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Definition
| encapsulated bacteria or pyogenic bacteria such as H. influenza, S. pnuemoniae, S. pyogenes, S. aureus and viral infections like gut viruses |
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Term
| What is the most potent receptor involved in phagocytosis of pyogenic bacteria that also initiates activation of neutrophil? |
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Definition
| CR3. CR3 mediates endocytosis of pathogens with iC3b on them |
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Term
| Patients with X-linked hyper IgM syndrome are susceptible to infection with what types of pathogens? |
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Definition
| pyogenic bacteria (because IgG2 is needed to fix complement to encapsulated bacteria) |
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Term
| T/F Activation of B cell by T cell is required for class switching. |
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Definition
| true! this is done via CD40L on T cells and CD40 on B cells |
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Term
| X-linked hyper IgM syndrome is caused by a deficiency in... |
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Definition
| CD40L (so there is no B cell activation by T cells and B cells never undergo isotype switching, also there is no macrophage activation which impairs inflammatory response) |
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Term
| Why are XL-IgM patients often neutropenic? What does this make them susceptible to and how do you treat it? |
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Definition
| because they have no CD40L their macrophages aren't activated and their inflammatory response is impaired. They are susceptible to extracellular bacteria and fungi. Tx is GM-CSF. |
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Term
| Deficiency in what causes impaired lymphocyte survival that results in SCID? |
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Definition
| adenosine deaminase (ADA) or purine nucleoside phosphorylase (PNP) |
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Term
| Deficiency in what causes SCID via defect in TCR gene rearrangement? |
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Definition
|
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Term
| Deficiency in what causes SCID via defects in cytokine-mediated signaling for lymphocyte maturation? |
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Definition
| IL-2 receptor deficiency (common gamma chain receptor deficiency) |
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Term
| What is the inheritance pattern of SCID: ADA deficiency? |
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Definition
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Term
| Patients with SCID: ADA deficiency lack normal development of which organ? |
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Definition
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Term
| Where/what is the gene defect that causes Wiskott-Aldrich Syndrome? |
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Definition
| X chromosome--> WASP gene, which is only active inleukocytes and platelets |
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Term
| What are the signs/symptoms of Wiskott-Adlrich? |
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Definition
| low platelet counts (platlets are small and cleared by the spleen) T cells can't stimuate B cells to make antibodies. (No antibody response after vaccination). CD8s can't migrate to infection |
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Term
| Patients with Wiskott-Aldrich Syndrome are susceptible to what kinds of infections? |
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Definition
| viral infections (because CD8 T cells can't migrate) and pyogenic bacterial infections (because B cells aren't stimulated to make antibodies) |
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Term
| X-linked lymphoproliferative syndrome is characterized by... |
|
Definition
| uncontrolled proliferation of defective CD8 T cells. |
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Term
| T/F X linked lymphoproliferative syndrome (XLP) results in abnormalities only in T cells. |
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Definition
| False, they have defects in many cell types including those needed to control viral infection (NK cells and CD8 T cells) |
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Term
| T/F XLP patients are susceptible to EBV infection. |
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Definition
|
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Term
| What gene defect is associated with XLP? |
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Definition
| SAP gene which is required for activation of NK cells and CD8+ CTLs to kill virus infected cells |
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Term
| Bare lymphocyte syndrome that results in low to no CD8 cells is caused by a defect in? |
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Definition
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Term
| Bare lymphocyte syndrome with low to no CD4 T cells is due to a deficiency in what? |
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Definition
|
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Term
| What is the inheritance pattern of MHC I deficiency? |
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Definition
|
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Term
| MHC II deficiency inheritance pattern? |
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Definition
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Term
| Most inherited immunodeficiency diseases can be treated by ____. |
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Definition
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