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26 Cards in this Set
- Front
- Back
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Bruton's agammaglobulinemia
major defect |
BTK defect, blocks Bcell differentiation/maturation
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Hyper IgM syndrome
major defect |
Defective CD40L on Th cells, inability to class switch
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Selective Ig deficiency
major defect |
defect in isotype switching, deficiency in a specific class of Ig
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CVID
major defect |
defect in B cell maturation
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Thymic aplasia/DiGeorge syndrome
major defect |
22q11 deletion, failure to develop 3rd and 4th pharyngeal pouches
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IL-12 receptor deficiency
major defect |
decreased Th1 response
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Hyper IgE syndrom (Job's syndrome)
major defect |
Th cells fail to produce IFNgamma, neutros can't respond to chemotactic stimuli
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Chronic mucocutaneous candidiasis
major cell dysfunction |
T cell
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Ataxia-telangiectasia
major defect |
defect in DNA repair enzymes, affects T and B cells
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Wiskott-Aldrich syndrome
major defect |
progressive deletion of B and T cells
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Leukocyte adhesion deficiency
major defect |
Defect in LFA1 integrin (CD18) on phagocytes
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Chediak-Higashi syndrome
major defect |
defect in MT function with decreased phagocytes
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Chronic granulomatous disease
major defect |
lack of NADPH oxidase, decreased reactive oxygen species and absent respiratory burst in neutros
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Bruton's agammaglobulinemia
presentation |
recurrent bacterial infections after 6mo (decrease in all Igs)
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Hyper IgM syndrome
presentation |
severe pyogenic infections early in life (high IgM, low everything else)
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Selective Ig deficiency
presentation |
sinus and lung infections, milk allergies, diarrhea, anaphylaxis if exposed to blood with IgA
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CVID
presentation |
can be acquired in 20s-30s
risk of autoimmune disease, lymphoma, sinopulmonary infections (normal Bcell #s, low plasma cells) |
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DiGeorge
presentation |
tetany (hypocalcemia), recurrent viral/fungal infections, congenital heart and great vessel defects
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IL-12 receptor deficiency
presentation |
disseminated mycobacterial infections (TB)
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Hyper IgE syndrome (Job's syndrome)
presentation |
FATED: coarse Facies, cold staphylococcal Abscesses, retained primary Teeth, Dermatologic problems (eczema)
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Chronic mucocutaneous candidiasis
presentation |
candida albicans infections of skin and mucous membranes
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Ataxia-telangiectasia
presentation |
Triad: cerebellar defects (ataxia), spider angiomas (telangiectasias), IgA deficiency
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Wiscott-Aldrich syndrome
presentation |
Triad: TIE
Thrombocytopenic purpura, Infections, Eczema |
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LAD
presenation |
bacterial infections, absent pus formation, delayed separation of unbilicus
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Chediak-Higashi
presentation |
recurrent pyogenic infections (staph/strep), partial albinism, neuropathy
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CGD
presentation |
catalase positive infections (s. aureus, E. coli, Aspergillus)
negative NBT reduction test! |
