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immune deficiency
immunodeficiencies from first aid
| Question | Answer |
|---|---|
| tyrosine kinase defect leading to recurrent bacterial infections over 6 months. | bruton's agammaglobulinemia - defect in B-cell maturation = no immunoglobulins. X-linked. |
| Failure of the 3rd and 4rd pharyngeal pouches to develop - viral and fungal infections plus seizures | digeorge - T cell defect and agenesis of parathyroids. 22q11. Heart and great vessel abnormalities too. |
| Defect in early stem cell differentiation leading to recurrent viral, bacterial, fungal and protozoan infections. (2 causes) | ADA deficiency or IL-2 receptor deficiency or no synthesis of MHCII - SCID. presents after 6 months. tx = bone marrow xplant - no rejection |
| disseminated mycobacterium infection | IL-12 receptor deficiency - no activation of TH1 lympho's and no granuloma. |
| severe pyogenic infections from defect in CD40L activation | HyperIgM syndrome - CD40L defect on T cells leading to no class switching stimulus for B cells. Low IgG, A, and E |
| Boy elevated IgE, IgA and recurrent pyogenic infections | wiskott aldrich (WIPE) - weak IgM response to polysaccarides on bacteria - elevated IgE and IgA |
| Child with coarse facies, non-inflamed abscesses, primary teeth retention and eczema. High IgE | Job syndrome - failure of IFNg --> no neutrophil recruitment by macs. Coarse facies |
| Absent pus formation, neutrophilia, umbilical cord infection from delayed separation | LAD - leuko adhesion deficiency1 - LFA-1 integrin (CD18) defect on phagocytes - no neutrophil recruitment. |
| Albinism and peripheral neuropathy with Staph/strep infections | Chediak-Higashi: microtubule defect --> defective lysosomal emptying by phagocytes |
| Infections by opportunistic organisms - S. aureus, E. coli, aspergillus - negative tetrazolium reduction | NADPH oxidase deficiency = chronic granulomatous disease. Vulnerable to catalase positive organisms. |
| Skin and mucosal candidiasis | chronic mucocutaneous candidiasis: T cell fail to recognize candida |
| Recurrent pneumonia, diarrhea and milk allergies. | Select IgA deficiency - anaphylaxis with blood transfusions. |
| Viral and fungal infections, vessel defects, lymphomas and leukemias | ATM - dna repair leads to IgA deficiency 11q23. |
| Onset teens - 30's, associated with autoimmune diseases | CVID - normal B cells but impaired activation to plasma cells - low Ig's. Increased risk of lymphomas |
Created by:
karenkedong
on 2009-05-23