COMP 7

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.

• 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.

• 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

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.

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

• 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)

Deficiency in sphingomyelinase.