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14 Cards in this Set
- Front
- Back
Bruton's agammaglobulinemia:
MOI due to results in sign |
XLR
defect in a tyrosine kinase gene --> decreased B cell production low levels of all classes of Ig's recurrent bacterial infections after 6 months of age (maternal IgG declines after 6 months of age) |
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DiGeorge syndrome:
deletion due to results in signs (2) |
22q11 deletion
failure of development of 3rd and 4th pharyngeal pouches --> no thymus --> decreased T cell production recurrent viral and fungal infections tetany (due to hypocalcemia - parathyroid also fail to form) congenital defects of heart and great vessels |
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severe combined immunodeficiency (SCID):
due to (3) results in |
adenosine deaminase deficiency
defective IL-2 receptors failure to synthesize MHC II antigens recurrent viral, bacterial, fungal, and protozoal infections (because of early defect in stem cell differentiation) |
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IL-12 receptor deficiency:
patients present with |
disseminated mycobacterial infections (decreased T cell activation results in failure of NK cells and Th1 cells to be activated)
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hyper-IgM syndrome:
due to patients present with signs (2) |
defect in CD40L on CD4 Th cells --> inability to class switch
severe pyogenic infections early in life high levels of IgM very low levels of IgG, IgA, and IgE |
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Wiskott-Aldrich syndrome:
MOI due to Ig levels symptoms (3) |
X-linked
defect in the ability to mount an IgM response to capsular polysacchardies of bacteria IgA - high IgM - low IgE -normal pyogenic infections thrombocytopenic purpura eczema (PIPE) |
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Job's syndrome:
due to patients present with (4) IgE levels |
failure of IFN-γ production by helper T cells --> neutrophils fail to respond to chemotatic stimuli
recurrent, noninflamed ("cold") staph abscesses eczema corase facies retained primary teeth IgE - high |
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leukocyte adhesion deficiency syndrome:
due to patients present with (2) |
defect in LFA-1 adhesion proteins on phagocytes
severe pyogenic and fungal infections delayed separation of the umbilical cord |
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Chediak-Higashi disease:
MOI due to patients present with (3) |
AR
defect in microtubular function and lysosomal emptying of phagocytic cells recurrent pyogenic infections by staph and strep partial albinism peripheral neuropathy |
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chronic granulomatous disease (CGD):
due to patients present with diagnosis confirmed with |
lack of NADPH oxidase activity --> defect in phagocytosis by neutrophils
susceptibility to opportunisitc infections with bacteria (esp. S. aurues, E. coli, and Aspergillus) negative nitroblue tetrazolium dye reduction test |
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chronic mucocutaneous candidiasis:
due to patients present with |
T-cell dysfunction again Candida albicans
skin and mucous membrane Candida infections |
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selective immunoglobulin deficiency:
due to most common form patients present with (3) |
deficiency in a specific class of Ig's (due to a defect in isotype switching)
IgA deficiency sinus and lung infections milk alergies diarrhea |
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ataxia-telangiectasia:
due to patients present with (2) |
defect in DNA repair enzymes with associated IgA deficiency
cerebellar problems, e.g., ataxia spider angiomas, i.e., telangiectasias |
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common variable immunodeficiency:
number of: - B cells - plasma cells - Ig's acquired during the ages of |
B cells - normal
plasma cells - decreased Ig's - decreased 20's to 30's |