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immune deficiency

immunodeficiencies from first aid

QuestionAnswer
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
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