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13 Cards in this Set

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sx of recurrent sinopulmonary infections, candidiasis, cold abscesses and abnormal grotesque facies
Job's syndrome
what is the pathology responsible for Job's syndrome?
deficient gamma-interferon
sx of bacterial infections, viral infections and partial albanism stemming from a deficiency in proper microtubule function that does not allow fusion of lysosomes with phagosomes in macrocytes
chediak-higashi syndrome (AR)
sx of granulomas, reccurent bacterial and fungal infections and a yellow NTB test that result from a deficiency in NADPH oxidase (causing an impaired respiratory burst)
chronic granulomatous disease (XLR)
sx of recurrent severe pyogenic bacterial infections and a severely low amount of ABs as a result of no mature B cells
Bruton's agammaglobulinemia
sx of bacterial infections of mucus membranes, possible anaphylaxis to transfused blood and reduced levels of IgA as a result of IgA producing plasma cells failing to develop
IgA deficiency
sx of recurrent pyogenic bacterial infections, normal numbers of B-cells and decreased levels of ABs due to abnormal B-cell maturation
common variable immunodeficiency
sx of profound deficits in T-cells; severe recurrent viral, fungal, and protozoal infections; tetany; hypocalcemia due to a developmental failure in the thymus
DiGeorge Syndrome (thymic aplasia)
sx of chronic candidiasis, normal T-cells as a result of an inability of the T-cells to destroy Candida albicans
Chronis mucocutaneous candidiasis
sx of severe, recurrent pyogenic infections as a result of the inability of B-cells to class switch from IgM to IgG production
Hyper IgM syndrome
sx of recurrent baterial, viral, fungal and protozoal infections; low AB levels and no lymph nodes that most commonly presents as infections with Pneumocystis pneumonia
severe combined immunodeficiency (SCID)
sx of recurrent bacterial infections (especially otitis media), eczema, thrombocytopenia and low IgM levels as a result of a lack of production of IgM from B-cells
Wiskott-Aldrich syndrome (XLR)
sx of ataxia, telangiectasia, recurrent infections (especially sinopulmonary) increased risk of malignancy, low T-cell numbers and significant IgA deficiency as a result of deficient DNA repiar enzymes that causes a B and T cell deficiency
ataxia telangiectasia