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16 Cards in this Set
- Front
- Back
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x-linked recessive (2)
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Bruton aggamaglobulinemia, Wiscott Aldrich,
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autosomal recessive
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Chediak Hedashi
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defect in LFA-1 integrin proteins. recurrent bacterial infections with absent pus formation & DELAYED SEPARATION OF UMBILICAL CORD
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Phagocytes- leukocyte adhesion deficiency syndrome type I
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defect in MT fx & lysosomal emptying of phagocytes. recurrent pyogenic infections by staph & strep, partial albinism, perpipheral neuropathy
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PHagocytes- Chediak Higashi disease
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Defect in phagocytosis due to lack of NADPH oxidase activity or similar enzymes. marked susceptibility to opportunistic infections with bacteria- S.aureus, E.coli, Aspergillus, dx confirmed with negative nitroblue tetrazolium dye reduction test
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Phagocytes- chronic granulomatous disease
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T cell dysfx esp against Candida
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Phagocytes- chronic mucocutaneous disease- T cells
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Disseminated mycobacterial infections due to decreased Th1 response
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T cells- Il-12 receptor deficiency
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Defect in CD40L on T cell --> B cells can't class switch. High IgM, low IgG, IgE, IgA
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B cell- hyper IgM syndrome
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X linked, no IgM response to capsular polysaccharides of bacteria. High IgA, normal IgW, low IgM, Triad of symptoms: pyogenic Infections, thrombocytopenic P, Eczema,
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B cells- Wiskott Aldrich
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Failure of INF-y production by helper T. neutrophils dont response to chemotactic stimuli. coarse facies, cold (non inflamed) staph abscesses, retained primary teeth, increased IgE, Derm problems (Eczema)
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Macrophages- Job's syndrome
FATED |
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Deficiency in specific Ig class- usually IgA. sinus & lung infections, milk allergies, diarrhea
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B cells- selective Ig deficiency
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DNA repair enzyme assoc with IgA def. ataxia & telangiectasia
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B cells- ataxia-telangiectasia
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Normal B cells. decreased plasma cells. defect in maturation. decreased Ig & can be acquired in 20s-30x
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B cells- common variable immunodeficiency
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failure of 3rd-3th pharyngeal pouches to develop-->no thymus/paraT glands. Tetanty, recurrent viral/fungal. congenital heart defects. 22q11
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Thymic dysplasia (Di George)
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negative nitroblue tetrazolium dye reduction test
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chronic granulomatous disease
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defect early in stem cell diff. recurrent viral/bacterial/fungal /protozoal infections. may have multiple causes
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SCID
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