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.
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.
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.
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
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.
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)
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
- 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
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.
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.
chimeric monoclonal antibody that attaches to CD20 of B cells -> death of the B cell.
Clinical: Transplant rejections, autoimmune disorders, leukemias, lymphomas.
- Class of type 1 transmembrane proteins.
- Function: cell adhesion
- Require: calcium
Disorder of the kidney proximal tubules in which what is supposed to be reabsorbed is not. (glucose, uric acid, phosphate and bicarbonate)
Niemann Pick disease
Deficiency in sphingomyelinase.