1. Metachromatic leukodystrophy?
    A deficiency in arylsulfatase A, which leads to buildup of sulfatide(cerebroside sulfate) which causes damage to to the myelin sheaths around the nerve cells.
  2. Fabry Disease
    X-linked recessive lysosomal storage disease.

    A deficiency in alpha-galactosidase A -> accumulation of ceramide triheoxside in blood vessels, tissue, or organs.

    FINDINGS: peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal diseae.
  3. Chronic Lymphocytic leukemia
    • Cancer of B-lymphocytes. Affects bone marrow -> generalized lymphadenopathy.
    • Usually older than 60 years of age.

    PBS: lymphocytosis, smudge cells, sphereocytes.

    Usually asymptomatic. 10 years survival.
  4. Acute myelocytic Leukemia
    • Malignant neoplasm of hematopoietic stem cells in Bone marrow - tumor cells spread to peripheral blood.
    • 15-39 years
    • >20% blasts cells in the bone marrow.

    PBS: auer rods and cytoplasmic granules seen

    Stains: myeloperoxidase and Sudan black
  5. Acute Lymphocytic Leukemia
    Stains: Terminal deoxytransferase & periodic acid schiff.

    • T cell and B cell involved
    • 0-14 years of age

    PBS: normocytic normochromic anemia.

    2-12yoa and +CD10 = good prognosis.
  6. Thrombotic Thrombocytopenic Purpura
    Blood coagulation disorder in which microscopic clots form in small vessels throughout the body.

    MCC: inhibition of enzyme ADAMTS13(metalloprotease that cleaves large multimers of von Williebrand factor)

    PBS: schistocytes
  7. What are the B cell disorders?
    • 1. Bruton's agammaglobulinemia:
    • X-linked recessive defect in tyrosine kinase gene -> no B-cell differentiation

    • 2. Hyper-IgM syndrome:
    • defective CD40L on helper T cells = inability to undergo isotypic switchting.

    • 3. Selective Ig deficiency:
    • Defect in isotype switching -> deficiency in specific class of immunoglobulins.

    • 4. Common variable immunodeficiency:
    • Defect in B-cell maturation
  8. Wiskott-Aldrich syndrome
    • X-linked recessive disease
    • Decreased IgM but elevated IgG and IgA
    • This affects both T and B cells

    Triad: Thrombocytopenia, ezcema, and immunodeficiencies-> infections.

    DX: Ig levels

    • TX: Kid with helmet
    • bone marrow transplant is only curative
  9. Cyclosporine
    Immunosuppressant used to prevent rejection from a transplant.

    MOA: binds calcineurin which leads to no activation of transcription of the T cell -> no IL-2 created -> no activation of T cells against the graft.
  10. Muromonab-CD3
    antibody used to prevent acute rejection of an organ transplant.

    Binds CD3 receptor -> block cellular interaction with CD3 protein responsible for T-cell signal transduction.
  11. Rutuximab
    chimeric monoclonal antibody that attaches to CD20 of B cells -> death of the B cell.

    Clinical: Transplant rejections, autoimmune disorders, leukemias, lymphomas.
  12. Cadherins
    • Class of type 1 transmembrane proteins.
    • Function: cell adhesion
    • Require: calcium
  13. Fanconi's syndrome
    Disorder of the kidney proximal tubules in which what is supposed to be reabsorbed is not. (glucose, uric acid, phosphate and bicarbonate)
  14. Niemann Pick disease
    Deficiency in sphingomyelinase.
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