827394
Description
Flashcards by sophietevans, updated more than 1 year ago
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Created by sophietevans
over 10 years ago
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| Question | Answer |
| What is the genetic event that results in hereditary angioneurotic oedema (HAE)? | An autosomal dominant mutation in the C1q esterase gene. |
| What effect does the genetic event that causes hereditary angioneurotic oedema (HAE) have on the immune system? | There is lack of regulation of the classical complement and clotting pathways, resulting in inflammation. |
| How does hereditary angioneurotic oedema (HAE) present clinically? | Angioedema, laryngeal oedema, a family history of the disease (in every generation across both males and females because it is autosomal dominant), and recurrent and severe infections from birth (as in SCID). |
| How is hereditary angioneurotic oedema (HAE) diagnosed? | Clinical presentation and family history (incl. inheritance pattern). |
| How is hereditary angioneurotic oedema (HAE) treated? | C1q esterase inhibitor infusions to correct the deficiency. |
| What causes leukocyte adhesion deficiency (LAD)? | Deficiency of the B2-integrin subunit which results in neutrophils being unable to extravasate, and no inflammation. |
| How does leukocyte adhesion deficiency (LAD) present clinically? | Neutrophilia (as they cannot extravasate but need to), no pus or polymorphonuclear cells in infected tissues (when one would expect there to be), recurrent bacterial (but not viral) infections, oral infections such as gingivitis and periodontitis, and loss of deciduous and permanent teeth. |
| How is leukocyte adhesion deficiency (LAD) diagnosed? | Clinical presentation and history. Flow cytometry reveals decrease/absence of CD18 and associated heterodimers. |
| How is leukocyte adhesion deficiency (LAD) treated? | Anti-microbial therapy, leukocyte transfusions, good oral hygiene, and bone marrow transplant. |
| What genetic event(s) result in chronic granulomatous disease (CGD)? | Different genetic effects - the main one being loss of/deficiency in cytochrome c558. |
| What effect does the genetic event that causes chronic granulomatous disease (CGD) have on phagocytes? | They are unable to generate reactive oxygen species like the superoxide radial, O2-, peroxide, or hydrochlorous acid, so they can phagocytose but not kill. Further, antigen processing and presentating is greatly reduced so much more antigen is required than would have been otherwise. |
| How does chronic granulomatous disease (CGD) present clinically? | Recurrent bacterial and fungal infections, abscesses of the liver and skin, swollen lymph nodes (as they can be infected), pneumonia, non-malignant granulomas, and an inability to fight infection (which can be fatal). |
| How is chronic granulomatous disease (CGD) diagnosed? | History and granuloma presence. |
| How is chronic granulomatous disease (CGD) treated? | Gene therapy if the specific theme can be identified, or addition of IFN-γ to restore oxidative function to CGD granulocytes. |
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