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LECOM Path Ch 6
LECOM Path Ch 6 immune defic-amyloid
| Question | Answer |
|---|---|
| genetic deficiencies in T cells are often clinically indistinguishable from deficiencies in both T cells and B cells T/F | TRUE; T cells mediate B cell antibody synthesis |
| This x-linked disease is characterized by failure of pro-B cells and Pre-B cells to develop into mature B cells | X-linked Agammaglobulinemia |
| What is the molecular basis of X-linked agammaglobulinemia | mutations in the btk tyriosine kinase prevents signals from the BCR (pre-B cell; with the heavy chain complexed with the surrogat elight chain) from sending signal down to initiate light chain rearrangement and maturation stops at pre-BCR |
| At what age does Agammaglobulinemia manifest | 6 months due to depletion of maternal Igs |
| What organisms are typically insiduous in patients with agammaglobulinemia | Haempphilus influenza, streptococcus pneumonia, and staphyloccocus aureus, enteroviruses (polio) and Giardia Lamblia |
| A young buy of 6 months comes in with recurrent otitis media and pneumonia, cultures grow staphylcoccus aureas. The child's Ig count is low for all Igs, what is a likely diagnosis, FACS analysis of bone marrow reveals large numbers of CD19 tagged cells | X-linked agammaglobulinemia (CD19 is a marker for PRE-B cells) |
| This disease is marked by extremely low levels of serum and secretory IgA, recurrent infections of mucosal systems (respiratory, gastrointestinal, and urogenital) and increased frequency of autoimmune disorders such as SLE and RA | Isolated IgA deficiency |
| This disease is characterized by reduced IgA, IgG, and IgE antibodies and is caused by defieiciency in either CD40L (x-linked) or AID (auto-recessive) | Hyper-IgM |
| Why are patients with CD40L mutations susceptible to the intracellular organism pneumocystis jiroveci (causes pneumonia) | CD40L(hyper-IgM) is also involved with cell mediated immunity |
| This disease is a result from the failure of development of the third and fourth pharyngeal pouches resulting in thymic aplasia, tetany, and congenital heart defects | DiGeorges Syndrome |
| This patient comes in with recurrent pneumonia caused by pneumocystis jeroveci. Cell counts reveal normal B cell numbers but low T cells. Lab values also show decreased calcium levels. And a murmur is noted on heart exam. What is a likely diagnosis | DiGeorges Syndrome |
| This disease is caused by mutations in transcription factors that are required for MHC class 2 gene expression; results in SCID | bare lymphocyte syndrome |
| What do mutations in the common gamma chain subunit of cytokine receptors lead to | X-linked SCID |
| What do mutations of the enzyme adenosine deaminase lead to | Autosomal recessive SCID |
| This X-linked immunodeficiency is marked by thrombocytopenia, eczema, and marked vulnerability to recurrent infection, ending in early death. Gene defect in WASP, a protein that links antigen receptors to cytoskeleton | Wiskott-Aldrich Syndrome |
| What is the problem associated with a deficiency in the classical complement pathway | increased incidence of SLE-like autoimmune disease |
| What organism thrives in patients that cannot form the membrane attack complex of the complement system | Neisseria bacteria (thin walled) |
| What does deficiency with the C1 inhibitor give rise to and why | hereditary angioedema (increase in C1r and C1 s, Factor 12, results in increased vasoactive components >> edema) |
| A defect in enzymes required for glycophosphatidyl inositol linkages (which are essential for assembly of decay-accelerating factor and CD59, both of which regulate complement) lead to uncontrolled complement activation and hemolysis | Paroxysmal Nocturnal Hemoglobinuria |
| What are the five groups at risk for developing AIDS in order of most common | Homosexuals; IV drug abusers; Hemophiliacs; Blood transfusee; Heterosexuals |
| What are the three major routes of transmission of HIV | Sexual, paraenteral (IV drugs, hemophiliacs); mother to infant |
| Viral transmission of HIV during sexual contact occurs in two ways | direct innoculation into a blood vessel breached by trauma; infection of dendritic cells or CD4 cells in mucosa |
| What concurrent conditions result in increased risk of HIV transmission during sexual contact | Any STD (especially those that result in genital ulceration) |
| What are the three routes of transmission of HIV from mother to infant | in utero by transplacental spread; during delivery; breast milk |
| What is the target antigen on HIV targeted by antibodies used in detection studies like ELISA | p24 |
| What are the two major (systems) targets of HIV | Immune system and Central Nervous System |
| What does the HIV molecule use as a receptor and co-receptor to infect cells | CD4 and CCR5 and CXCR4 (chemokines are co-receptors) |
| The initial step of HIV infection is binding of this HIV surface glycoprotein with CD4 molecules | gp120 |
| What happens after gp120 binds CD4 | gp120 then changes to allow binding of CCR5, which leads to a change on gp41 allowing the fusion of virus with host cell |
| After incorporation of the HIV DNA into Tcell genome, how exactly is the proviral DNA transcribed | Activation of T cell leads to production of transcription factor NF-kB which also binds to the HIV proviral DNA segment on the genome, allowing transcription |
| What are some mechanisms of T cell death caused by HIV | Direct killing; destruction of lymphoid organs; activation induced cell death; loss of immature precursors; giant cell formation (t-tropic virus); apoptosis of uninfected T cells by binding of soluble gp120 |
| What are some Non T cells capable of being infected with HIV | macrophages (mostly tissue);mucosal dendritic cells (present to lymphoid organs); follicular dendritic cells (reservoir with HIV on surface) |
| What are some causes of polyclonal activation of B cells following HIV infection | cytolomegavirus or EBV reactivation; gp41 is a prominent B cell growth factor; IL-6 from HIV infected macrophages |
| What is responsible for the initial containment of HIV infection | Anti HIV CTL |
| What is the primary clinical measurement used to assess when to atart anti-retroviral therapy and what is a good clinical marker for HIV disease progression following Acute infection | CD4 cells; Extent of viremia ("set point") |
| This is the most common fungal infection in patients with aids, and can sometimes be a marker for immune decompensation | Candiadis |
| T/F Tuberculosis like all atypical mycobacteria typically occur late in AIDS under severe immunocomprimise | FALSE; tuberculosis can occur early in AIDS |
| What is the major clinical manifestation of cryptococcosis seen in AIDS | meningitis |
| This protozoa causes encephalitis and is responsible for 50% of all mass lesions in the CNS (prominent in Immunocomprimised) | toxoplasma gondii |
| Persistent diarrhea seen in untreated AIDS patients is caused by these infectious agents | Cryptosporidium; isopora belli, microsporidium and enteric bacteria (salmonella, shigella) |
| What is common about the malignancies developed by AIDS patients (kaposi sarcoma, B cell ymphoma, cervical and anal carcinoma) | Caused primarily by oncogenic DNA viruses |
| What are the three groups of lymphomas in AIDS patiens | Systemic, primary CNS, Body cavity |
| What are some clinical innovations recently implemented that has resulted in fewer mortality, and less opportunistic infections as well as previously associated diseases such as Kaposi's Sarcoma | HAART (highly active antiretroviral therapy) |
| This is the paradoxical deterioration of the immune system during administration of HAART in patients with AIDS | immune reconstitution inflammatory syndrome |
| What are some complications of AIDS HAART therapy | Immune reconstitution inflammatory syndrome; Long term toxicity; Non-AIDS morbidity (i.e cancer) |
| Biopsies of enlarged lymph nodes in the early stages of HIV infection reveal what | Marked follicular hyperplasia; attenuated mantle zones; (merging germinal centers with interfollicular areas) |
| With electron microscopy and in situ hybridization, where can HIV particles be found in the lymph nodes | In the nodes, they are concentrated on follicular dendritic cells ( trapped by immune complex) |
| In early HIV patients, what do peripheral blood smears show (caused by the B cell hyperplasia and resultant hypergammaglobulinemia) | Rouleax formation |
| What morphological changes occur within lymph nodes as HIV progresses and the B-cell proliferation subsides | Depletion of follicles; disruption of the organized network of follicular dendritic cells; germinal centers may be hyalinized |
| What stain is used to detect amyloid deposits | Congo red (pink/red color OR green briefringence) |
| What is the structure of Amyloid | continuous non-branching fibrils with cross-B-sheet conformation |
| What are the three most common forms of amyloid proteins | AL (amyloid light from Ig light chains); AA (from liver); AB (Alzheimers) |
| Which amyloid deposition is associated with plasma cell tumors | AL amyloid (made of free light chain) |
| This form of amyloid fibril protein is derived from SAA during acute phase responses | AA amyloid (often called secondary amyloidosis) |
| This amyloid protein is made from proteolysis of amyloid precursor protein and is often found at the core of cerbral plaques in Alzheimer patients | B-amyloid protein (AB) |
| This mutated protein is seen in familial amyloid polynueropathies and deposited in heartrs of senile systemic amyloidosis | transthyretin |
| What are the two categories of proteins that form amyloid | normal proteins with tendency to misfold are overproduced; mutations of normal proteins (TTR transthyretin) |
| This form of amyloidosis is due to some form of underlying plasma cell dyscrasia; is seen in som multiple myeloma patients; and sometimes associated with Bence-Jones proteins (Light chains) | Immunocyte dyscrasia with amyloidosis (primary) |
| This form of amylodosis is associated with chronic inflammatory conditions (RA, ankylosing spondylitis, IBS, ulcerative colitis, and crohns) as well as chronic skin infections associated with "skin-popping" of narcotics | Reactive systemic amylodosis (AA protein) |
| A patient with kidney failure presents with carpal tunnel syndrome, she has been on hemodialysis for a months, what is the underlying problme | Hemodyalisis-associated amyloidosis (B2 microglobulin cannot be filtered and deposits) |
| This hereditary amyloidosis is due to AA fibril deposits, and is caused by an autoinflammatory syndrome due to abnormally high levels of IL-1; and characterized clinically by recurrent fever and serosal inflammation | Familial mediterranean fever (pyrin gene) |
| Amyloid deposition of the kidney results in what | Capillary lumen obliteration (which may lead to ischemia) |
| Amyloid deposition in the spleen takes two forms, what are they | Sago spleen (tapioca like granules in Follicles); Lardaceous spleen (walls of splenic sinus in red pulp) |
| Patient present with thrush, diaper rash and failure to thrive. Morbilliform rash occur after birth due to GVH disease by maternal T cells, recurrent infections from pathogens such as candida albicans, pnemocystis jiroveci, cytomegalovirus, psuedomonas. | SCID [Can be caused by ADA deficiency (auto-recessive) or common gamma chain subunit deficiency (x-linked)] |
| A vascular tumor and the most common neoplasm in patients with AIDS, it is caused KSHV or human herpes virus 8; involves prolif. of mesenchymal spindle cells and prolif. of slit-like vascular spaces; affects skin, mucous m., GI, lung, and lymph nodes | Kaposi sarcoma |
| A 3-year old girl comes in with recurrent ear infection and a history of pnemonia & bronchitis. B/T cell counts are normal. Circulating Igs are down. Biopsy of her LNs reveals hyperplastic germinal centers. She has no circulating plasma cells. | Common variable immunodeficiency (affects both sexes, similar to x-linked agammaglobulinemia, uknown cause) |
Created by:
csheck
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