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ABIM - Diseases
USMLE - Diseases 1
| Question | Answer |
|---|---|
| I cell disease | lysosomal enzymes aren't marked correctly with the mannose 6P marker --> these enzymes aren't correctly shuttled to lysosomes --> primary lysosomes don't contain the correct enzymes needed to degrade substances --> undigested substrates accumulate --> lar |
| Gaucher's disease | deficiency of glucocerebrosidase --> can't break down glucocerebrosides in lysosome --> accumulation. Have splenomegaly because the macrophages in the red pulp in the spleen are accumulating glucocerebrosides! Macs looked like they have a crinkled paper |
| Chediak-Higashi Syndrome - what is the inheritance pattern? | autosomal recessive |
| Chediak-Higashi Syndrome - what is the mechanism? | defect in membrane fusion --> primary lysosomes can't fuse with phagosomes --> can't produce secondary phagolysosomes --> increased susceptibility to organisms like Staph aureus. |
| Bruton's agammaglobulinemia | opsonization defect --> decreased neutrophil recognition and so can't kill bacteria effectively. Bruton's agammaglobulinemia, X-linked recessive, mutation in Btk gene, failure of pre-B cells to become mature B cells (B-cell maturation stops after the rea |
| Delayed separation of umbilical cord (> 1month after birth) | Leukocyte adhesion deficiency -- neutrophils can't diapedese. Should have severe gingivitis and inc neutrophils in blood count. |
| Chronic granulomatous disease inheritance pattern | X-linked recessive. Men have it and their mothers are asymptomatic carriers. |
| Chronic granulomatous disease mechanism | No NADPH oxidase in cell membranes of neutrophils and monocytes --> no oxidative burst, no production of peroxide. Can kill bateria that produce peroxide but not catalase, which neutrolizes the peroxide. Can kill strep but not staph because staph is cat |
| nitroblue tetrazolium test (NBT test) | clear = no oxidative burst --> chronic granulomatous disease; turns blue = oxidative burst --> normal |
| myeloperoxidase deficiency inheritance pattern | autosomal recessive |
| myeloperoxidase deficiency mechanism | have oxidative burst and makes peroxide, but does not have MPO --> can't make bleach to kill bacteria |
| acoustic neuroma | benign tumor of schwann cells of CN8 |
| neurofibromatosis inheritance pattern | autosomal dominant |
| neurofibromatosis | associated with acoustic neuroma |
| Name 2 diseases associated with Type I cryoglobulinemia | Multiple myeloma and Waldenstrom macroglobulinemia |
| Name 1 disease associated with Type II and Type III cryoglobulinemia | Hepatitis C |
| Multiple myeloma | Type 1 cryoglobulinemia, cancer of the plasma cells (malignant plasma cells in bone marrow aspirate), inc IgG. See an M-spike in the serum protein electrophoresis, positive Bence Jones protein in the urine, "punched out" lytic bone lesions (esp in the v |
| Waldenstrom macroglobulinemia | Type 1 cryoglobulinemia, cancer of the plasma cells, inc IgM and dec of other Ig's. Bence Jones proteins in urine, generalized lymphadenopathy (not present in multiple myeloma), anemia (but no lytic bone lesions) |
| Small cell CA of the lung associated with what endocrine abnormality? | secrete ADH (retain pure water) |
| Severe combined immunodeficiency (SCID) | immune defects in which there are problems with both B cells and T cells |
| X-linked SCID | mutation in gamma chain of the lymphocyte cytokine receptors --> immature pro-T and pro-B cells can't proliferate and respond to IL-7, the lymphocyte growth factor --> huge decrease in T cell population, no cell-mediated immunity, defective humoral immuni |
| autosomal SCID | mutations in adenosine deaminase (involved in breakdown of purines) --> accumulation of toxic purine metabolites in proliferating cells (e.g. proliferating lymphocytes) --> block in T cell maturation more than block in B cell maturation (humoral immunity |
| rarer autosomal SCID | mutations in RAG1 or RAG2 (encodes lymphocyte components of the VDJ recombinase) |
| block in B cell maturation | X-linked Bruton's agammaglobulinemia -- mutation in B cell tyrosine kinase (btk) --> B cells in bone marrow fail to mature beyond pre-B cell stage (B-cell maturation stops after the rearrangement of heavy chain genes) --> absence of mature B cells. Reduc |
| incomplete development of the thymus | DiGeorge syndrome -- defect in T cell maturation. Decreased T cells, normal B cells, normal or decreased serum Ig. Due to anomalous development of 3rd and 4th pharyngeal pouches --> thymus and parathyroid glands fail to develop |
| Patient with tetany, no thymic shadow on xray | DiGeorge syndrome -- defect in T cell maturation. Decreased T cells, normal B cells, normal or decreased serum Ig. Due to anomalous development of 3rd and 4th pharyngeal pouches --> thymus and parathyroid glands fail to develop. Have hypoparathyroidism |
| What is the treatment for SCID? | bone marrow transplantation; no rejection of the allograft!! |
| What is an allograft? | transplant sourced from a genetically non-identical member of the same species. Most human tissue and organ transplants are allografts |
| What is a xenograft? | transplant from different species |
| What is an isograft? | transplant from genetically identical person -- identical twin |
| What is an autograft? | transplant from one area of patient's body to another; transplant from self |
| Ig heavy chain deletions | IgG deficient -- chromosomal deletion at 14q32 (Ig heavy chain locus) |
| X-linked hyper-IgM syndrome | Mutations in CD40L, the T cell protein that binds to CD40 on APCs and activates B cells and macrophages --> defective B cell heavy chain class switching --> IgM is major serum antibody --> susceptibility to intracellular microbes. |
| Common variable immunodeficiency | abnormal B-cell differentiation (but normal NUMBER of B-cells) --> decreased plasma cells --> inadequate antibody production --> poor antibody responses to infections, reduced IgM, IgG, IgA --> recurrent infections, autoimmune dz, lymphomas. |
| what is the difference between common variable immunodeficiency and Bruton's X-linked agammablobulinemia? | Common variable is a defect in the DIFFERENTIATION of B-cells, so you have normal number of B-cells in the blood, just less plasma cells because B-cells differentiate into plasma cells. Bruton's is a defect in B-cell MATURATION, so you will have decrease |
| Bare lymphocyte syndrome | failure of APC's to express class II MHC molecules --> CD4 T cells aren't presented antigens for activation --> no maturation and activation of T cells (defective T cell maturation in the thymus, deficient activation of T cells in peripheral lymphoid orga |
| Complement C3 deficiency | severe infections --> usually fatal |
| Complement C2/C4 deficiency | components of the classical pathway (humoral) --> immune complex-mediated diseases |
| Eczema, reduced blood platelets, sinopulmonary infections | Wiskott-Aldrich syndrome, X linked recessive. Progressive deletion of B and T cells. Risk of malignant lymphoma. |
| decreased IgM, nl IgG, increased IgA and IgE | serum Ig profile for Wiskott-Aldrich syndrome |
| What disease can be passed on through a corneal transplant? | Creutzfeldt-jakob disease |
| Arthritis in SLE | small-joint inflammation (e.g. hands) with absence of joint deformity |
| Why would a patient with SLE be mistakenly diagnosed with syphilis? | SLE patients have antibodies against cardiolipin, the phospholipid used in the non-direct tests for Treponema pallidum, RPR and VDRL |
| what is systemic sclerosis | T cell release of cytokines --> excessive production of collagen in skin, GI, lungs, and kidneys |
| Greek patient comes in with symptoms of anemia and has eaten fava beans. | G6PD deficiency |
| Patient has Raynaud's phenomenon and dysphagia for solids and liquids | Systemic sclerosis. Raynaud's is the most common initial sign of systemic sclerosis. |
| Infant has recurrent infections from encapsulated bacteria | B cell immunodeficiency disorder |
| Infant has recurrent infections from intracellular organisms (viruses, fungi, protozoa) | T cell immunodeficiency disorder |
| Pt with sinopulmonary infections after 6 months of age, decreased all serum Ig's | Bruton's agammaglobulinemia, X-linked recessive, mutation in Btk gene, failure of pre-B cells to become mature B cells (B-cell maturation stops after the rearrangement of heavy chain genes) --> B cell levels in bloodstream and lymphoid organs are decrease |
| Patient with sinopulmonary infections, giardiasis, decreased IgA | IgA deficiency - failure of IgA B-cells to mature into plasma cells |
| Patient with sinopulmonary infections, GI infections, pneumonia, decreased serum Ig's | Common variable immunodeficiency. Defect in Bcell maturation to plasma cells. ADULT immunodeficiency disorder. |
| Cerebellar ataxia, telangiectasias of eyes and skin, increased serum alpha-feto protein | Ataxia-telangiectasia -- mutation in DNA repair enzymes, thymic hypoplasia, autosomal recessive. |
Created by:
christinapham
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