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5 Cards in this Set
- Front
- Back
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X-linked (Bruton) agammaglobulinemia
"a game for boys named Bruton with immature Bees" |
-Defect in Bruton tyrosine kinase (BTK), a tyrosine kinase gene --> no B cell maturation.
-X-linked recessive, so increased in boys -Present with recurrent bacterial and enteroviral infections, and Giardiasis after six months (with loss of Mom's IgG) "With no B cells, you have to BEG" B = bacteria E = enteroviruses (polio, coxackie) G = Giardia lamblia -Normal CD19+ B cell count (CD19 first expressed on pre-B cells) -Decreased pre/pro-B, decreased Ig (all classes) -Absent/scant lymph nodes and tonsils |
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Selective IgA deficiency
"Low IgA is Awfully common: Either Asymptomatic, or atopy, autoimmune, anaphylaxis to IgA" |
-Most common primary immunodeficiency – defect unknown
-Most patients asymptomatic, but there can be airway/GI (mucosal) infections, autoimmune disease, atopy, anaphylaxis to IgA-containing products" -IgA under 7 mg/dL, with normal levels of IgG and IgM "Low A, but normal GM" – low, eh? but normal for GM |
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Common variable immunodeficency (CVID)
The common variable is defective differentiation. "See the vid of defective differentiation" Susceptible to BEG – bacteria (IgG is opsonin), Enterovirus (IgA protects GI), Giardia (IgA protects GI). |
-CVID is defect in B-cell differentiation
-Many causes, including B and T-helper defects. *Decreased plasma cells and immunoglobulins* -Can be acquired in 20s/30s -Increased risk of autoimmune disease and lymphoma – also bronchiectasis and sinopulmonary infections (low IgA) |
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Deficiencies of C5-C9
"I can't complement you on those nice infections" |
Increased Neisseria infections – N. gonorrhoeae, N. meningitides.
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C1 inhibitor deficiency
-Too much C1, so I can only see one (due to periorbital edema) |
C1 inhibitor deficiency --> overactive complement
-Excess inflammation of overactive complement --> hereditary angioedema -Edema of skin (esp. periorbital) and mucosal surfaces. |
