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19 Cards in this Set
- Front
- Back
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X-linked
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Wiskott-Aldrich, Bruton's Agammaglobulinemia, Chronic Granulomatous Disease, Hyper IgM (no Cd ligand)
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bruton's agammaglobulinemia
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X-linked, B cell deficiency - no tyrosine kinase gene; low levels of ALL Ig's, recurrent bacterial infection after 6 months
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Thymic aplasia
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3rd/4th pouches fail to develop; paracortex in lymph nodes under developed because no T cells, no thymus, No PTH --> low calcium --> tetany; congenital defects in heart and great vessels; recurrent viral, fungal, protozoal infections; 90% have chrom 22q11 deletion
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How do you detect deletion in Di George syndrome?
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FISH
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Severe Combined Immunodeficiency
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defect in early stem cell differentiation - Ex: adenosine deaminase deficiency; last defense is cytotoxic NK cells
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Chrnoc mucocutaneous candidiasis, fatal or recurrent RSV, VZV, HSV, measles, flu, parainfluenza or PCP pneu; chronic diarrhea; failure to thrive; no thymic shadow on newborn CXR
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SCID
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Chronic mucocutaneous candidiasis
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T cell dysfunction v. C albicans
Rx: ketoconazole |
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immunodeficient with thrombocytopenia and purpura and eczema - also recurrent pyogenic infection because no IgM but high IfA
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Wiskott Aldrich syndrome
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Ataxia telangiectasia
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IgA deficient, cerebellar ataxia and poor smooth pursuit of moving target with eyes; telagiectasias of face > 5; increase risk for lymphoma and acute leukemias; radiation sensitive; increase alpha fetoprotein in kids > 8 months
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IgA deficiency
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most appear healthy, sinus and lung infections, European descent, atopy and asthma; possible anaphylaxis to blood transfusion and blood precursors
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IL-12 receptor deficiency
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mycobacterial infections
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Phagocyte deficiencies
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Chronic granulomatous disease, Chediak-Higashi disease, Job's syndrome, Leukocyte adhesion deficiency syndrome
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Chronic granulomatous disease
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lack of NADPH oxidase activity --> impotent phagocytes; Susceptible to organisms with catalase (S. aureus, E.coli, Klebsiella, Aspergillus, Candida);Dx: nitroblue tetrazolium (no yellow to blue black oxidation); prophylactic TMP-SMX; INF gamma also helpful
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Chediak Higashi disease
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Defective LYST gene (lysosomal transport) so defective phagocyte lysosome --> giant cytoplasmic granules in PMNs
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partial albinism, recurrent respiratory tract and skin infections, neurological disorders
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Chediak Higashi
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Job syndrome
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Hypperimmunoglobulin E syndrome; deficient IFN-g so PMNs fail to respond to chemotactic stimuli; high levels of IgE and eosinophils
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Eczema, recurrent cold staph aureus abscess, coarse facial features (broad nose, prominent forehead (frontal bossing), deep set eyes, and "doughy" skin; retained primary teeth
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Job syndrome
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leukocyte adhesion deficiency syndrome
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abnormal integrins (CD18) --> inability of phagocytes to exit circulation; delayed separation of umbilical cord; neutrophilia
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Hyper-IgM syndrome
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defective CD40L on helper T cells = inability to class switch so lots of pyogenic infections early in life and high IgM, low IgG, A, E
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