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53 Cards in this Set
- Front
- Back
What is it called when both B and T cell maturation are defected?
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SCID
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X-linked SCID occurs 50% of time. What is mutated? What can't take place?
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1) the gamma chain of the gammaC recpetor
2) gammaC is receptor for numerous cytokines like IL2,4,7,9,15. Without this receptor lymphocytes can't mature (know IL7 for sure because it is needed for T cell maturation in thymus) |
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What interluekin in particular is needed for lymphocyte proliferation and without results in reduced survival and maturation of lymphocyte precursors?
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IL7
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What organisms cause B cell deficiencies?
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pyogenic bacterial infections
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what can cause innate immune deficiencies?
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pyogenic bacteria
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are NK cells affected by X-linked SCID?
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yes because they have gammaC receptor that binds IL15 needed for NK proliferation
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Autosomal SCID is a mutation in what? What results?
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1) adenosine deaminase (ADA)
2) There is an accumulation of toxic purine metabolites in cells that actively synthesize DNA like lymphocytes |
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What is the difference in maturation of lymphocytes when someone has X linked vs autosomal SCID?
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autosomal SCID (ADA) affects both B and T cells preventing stem cells from becoming pro T cells and pro B cells. Whereas X linked only effects stem cells becoming pro T cells
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What stage of lymphocyte maturation does RAG deficiency effect?
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pro B and T cells becoming pre B and T cells
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What is RAG deficiency?
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it is an autosomal SCID
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What is the most common syndrome affecting B cell maturation?
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X linked agammaglobulinemia
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What is deficient in X linked agammaglobulinemia?
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B cell tyrosine kinase or Bruton tyrosine kinase (Btk)
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What stage of development does a Btk deficiency impact in B cell maturation?
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pre B cell to immature B cell
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What chromosome is the Btk gene on?
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X
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What condition can develop secondary to agammaglobulinemia?
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arthritis
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What causes DiGeorge syndrome?
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incomplete development of the thymus and parathyroid glands
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Do patients with DiGeorge tend to deteriorate or improve?
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improve with age
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In X linked SCID what is the relation of T cells to B cells to Ig?
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low T, normal to high B and low Ig
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What is seen in PNP deficiency in terms of numbers of T, B cells and Ig?
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decrease B, T and Ig
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What happens with a PNP mutation?
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accumulate toxic metabolites
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Are the autosomal SCIDs dominant or recessive?
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recessive
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A deletion at 14q32 causes what?
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Ig heavy chain deletion resulting in absent IgG1, IgG2, IgG4 and sometimes absent IgA and/or IgE
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What is the relation in di george of B and T cells and Ig?
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low T, normal B, normal or low Ig
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Embryologically what occurs to cause Di Georges syndrome?
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anomalous development of 3rd and 4th branchial pouches
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What is defective in X-linked hyper IgM syndrome?
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1) There is no B cell heavy chain isotype switching so the IgM is predominate antibody
2) cell mediated immunity cannot activate macrophages because of CD40L mutation 3) overall impairment of both cell mediated and humoral immunity |
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Where is the mutation that causes X-linked hyper IgM syndrome? What is this gene products function?
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CD40L is mutated and is the helper T cell protein that binds to C40 on macrophages and B cells to stimulate them
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What antibody is frequently defective but causes no clinical problems?
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IgA
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What is deficient in common variable immunodeficiency?
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reduced or no production of certain immunoglobulins
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What causes common variable immunodeficiency?
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mutations in receptor for B cell growth factors
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What do patients with common variable immunodeficiency suffer from?
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recurrent infections, autoimmune disease and lymphomas
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What is the bare lymphocyte syndrome? What process can't occur because this syndrome?
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1) failure to express MHC II molecules
2) Antigen presentation to T cells |
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What causes chronic granulomatous disease? What results? How does the immune system compensate?
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1)mutations in the enzyme phagocyte oxidase. When organisms are absorbed they can not be oxidized in neutralphils and macrophages
2) The immune system produces an abundance of phagocytes that form granulomas |
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What do C3 deficiencies result in? what do C2 and C4 deficiencies result in?
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1) severe possibly fatal infections
2) immune-complex mediated diseases resembling lupus |
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What part of the complement system are C2 and C4 in?
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classical pathway Note that people are not prone to infections when these are deficient like they are when C3 is absent
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What occurs in Chediak-Higashi syndrome?
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immunodeficiency from lysosomal granules in leukocytes not functioning properly. Effects phagocytes and NK cells
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What is the Wiskott-Aldrich syndrome characterized by and what causes it?
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patients have eczema, thrombocytopenia, and immunodeficiency
It is an X-linked disease that causes malformation of cytoskeletal proteins in hematopoeitic cells |
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Someone has ataxia, vascular malformations and immunodeficiency. What might they have?
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ataxia-telangectasia disease with mutations in genes involved in DNA repair enzymes
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In developed countries what are the most common causes of immunodeficiency?
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bone marrow cancers and various drug therapies
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What is a common cause of immunodeficiency in developing countries?
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protein deficiency
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absent expression of beta 2 integrin from mutations in the beta 2 gene is what disease?
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leukocyte adhesion deficiency-1
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Leukocyte adhesion deficiency-2 has what mutations?
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absent expression of leukocyte ligands for endothelial E and P selectins causing failure of leukocyte migration into tissues
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What is the major envelope gp of HIV that allows it to infect CD4 cells?
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gp120
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What receptor is located only on T cells that allows uptake of HIV?
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CXCR4
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What receptor is located on both macrophages and T cells that allows uptake of HIV?
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CCR5
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What is the integrated HIV DNA known as?
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provirus
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Most AIDS cases are caused by which strain of HIV?
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HIV-1
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After initial HIV infection what occurs?
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viremia
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What gene mutation may allow a person to remain disease free for years even though they have HIV infection?
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CCR5 mutations preventing uptake into macrophages
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What symptoms are present initially after an HIV infection?
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fever and malaise for 2-3 days then the virus becomes latent
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What oncogenic viruses are people with AIDS susceptible to? What are the cancers that result?
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1) HSV8 causes kaposis sarcoma
2) EBV causes B cell lymphoma |
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What is the dementia in AIDS thought to be caused by?
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infection of microglial cells in brain
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What surface molecule does HIV inhibit that prevents CTL from targeting infected cells?
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MHC I
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What is absent in leukocyte adhesion deficiency 2?
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absence of neutrophil sialyl-LewisX, a ligand of E-selectin on vascular endothelium.
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