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Details Title: Immunological Disease Description: USMLE Step 1 prep Total Flash Cards: 14 Created: 06/07/2004 07:48:01	To study from this set of flash cards, or to create your own your own study flash cards, register HERE. If you are already a registered user, CLICK HERE.
Cards Term Bruton's Agammaglobulinemia Definition X-linked recessive; defective Tyrosine Kinase gene -> low levels of all classes of Ig's AND low levels of B-cells -> Recurrent Bacterial Infections (after 6 months old when mom's passive immunity decline) Term Common Variable Immunodeficiency Definition NORMAL number of B-cells, but low levels of all types of Ab's -> Recurrent Bacterial Infections Term Selective Immunoglobulin Deficiency Definition Deficiency in one specific class of Ig, may be due to defective isotype switch; Selective IgA is most common -> Sinus and Lung Infections Term DiGeorge Syndrome Definition 22q11 Deletion -> failure of 3rd and 4th Pharyngeal Arches to develop -> Thymic and Parathyroid Aplasia -> Tetanus (due to low Ca) and Recurrent Viral/Fungal Infections (due to low T-cells) Term Chronic Mucocutaneous Candidiasis Definition T-cell dysfunction specifically against Candida albicans -> skin and mucous membrane Candida infections Term Severe Combined Immunodeficiency (SCID) Definition defect in early stem cell differentiation -> low levels of T and B cells -> recurrent viral, bacterial, fungal, and protazoal infections Term Wiskott-Aldrich Syndrome Definition X-linked; defect in ability to mount an IgM response to capsular polysaccharides of bacteria (normal IgE, elevated IgA) -> Triad: Recurrent Pyogenic infxns, Eczema, Thrombocytopenia Term Ataxia-Telangiectasia Definition defect in DNA repair enzymes -> IgA deficiency, Cerebellar problems, Spider angiomas (Telangiectasia) Term Chronic Granulomatous Disease Definition lack of NADPH Oxidase activity -> defective phagocytosis by Neutrophils -> Opportunistic infxns (S. aureus, E. coli, Aspergillus); diagnosis = Negative Nitroblue Tetrazolium test Term Chediak-Higashi Disease Definition AR; defect in Microtubular function and Lysosomal emptying of phagocytic cells -> recurrent Staph and Strep infxns Term Job's Syndrome Definition Failure of IFN-g production by CD4 T-cells -> failed Macrophage activation and Neutrophil chemotaxis -> "cold" (non-inflammed) Staph abscesses, Eczema, high levels of IgE Term Leukocyte Adhesion Deficiency Syndrome Definition deficiency of LFA-1 adhesion proteins on Phagocytes -> severe Pyogenic infections early in life Term Hyper-IgM Syndrome Definition defective CD40 Ligand on CD4 T-cells -> inability to class-switch -> severe Pyogenic infxns early in life; high levels of IgM, low levels of IgG, IgA, IgE Term IL-12 Receptor Deficiency Definition disseminated Mycobacterial infections