How the Immune System Works (and Fails) in 45 Minutes or Less. Disclosures. Learning Objectives 10/15/2014. Nothing to Disclose
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1 How the Immune System Works (and Fails) in 45 Minutes or Less Christina Ciaccio MD, MSc Assistant Professor of Medicine and Pediatrics Nothing to Disclose Disclosures Learning Objectives List s involved in the immune response and their principle function Recognize signs and symptoms of Cell defects, defects, and phagocytic defects Know when it is appropriate to refer a child with infections for evaluation of primary immunodeficiency 1
2 2
3 3
4 4
5 5
6 6
7 ?? 7
8 Severe Combined Immune Deficiency (SCID) iming: Less than a year 50% in first 6 months Presentation: Failure to thrive Atypical infections Persistent diarrhea SCID Evaluation Quantitative analysis Absolute ocyte count Cells by flow cytometry (CD3, CD4, CD8) Cells by flow cytometry (CD19, CD20, CD21) Qualitative analysis Mitogen Stimulation by PHA, ConA ( Cells) Mitogen Stimulation by PWM, LPS ( Cells) Antigen Stimulation by tetanus, candida 8
9 Phenotypes -+ Common gamma chain (x-linked SCID) Jak3 -- ADA deficiency PNP deficiency Omenn Syndrome (RAG, Artemis) Other Considerations DiGeorge (22q) Hypocalcemia Immunodeficiency Cardiac defects HIV Secondary immunodeficiency 9
10 10
11 11
12 12
13 ?? Antibody Deficiency 13
14 Evaluation Quantitative analysis Cells by flow cytometry (CD19, CD20, CD21) Quantitative immunoglobulins Qualitative analysis Response to protein antigens (tetanus, diptheria, hib, pneumococcal conjugate) Response to carbohydrate antigens (pneumococcal serotypes) Mitogen stimulation by LPS and PWM s Immunoglobulins Response to vaccines 14
15 s Immunoglobulins Response to vaccines s Immunoglobulins Response to vaccines s Immunoglobulins Response to vaccines 15
16 s Immunoglobulins Response to vaccines ruton s Agammaglobulinemia (x-linked) s Immunoglobulins Response to vaccines s Immunoglobulins Response to vaccines 16
17 s Immunoglobulins Response to vaccines s Immunoglobulins Response to vaccines Common Variable Immunodeficiency (CVID) Selective deficiency hyper s Immunoglobulins Response to vaccines 17
18 s Immunoglobulins Response to vaccines s Immunoglobulins Response to vaccines Specific Antibody Deficiency s Immunoglobulins Response to vaccines 18
19 ransient hypogammaglobulinemia of infancy Acquired hypogammaglobulinemia Postviral or chronic infection (EV, CMV, parvo) Metabolic disorder Hemoglobinopathy Nutritional deficiency (alcohol abuse) Radiation therapy Drug abuse Protein-losing states (GI, kidney disease) Medications (antirheumatics, antiseizure) Mineral Deficiency (zinc, biotin, 12, iron, vit A) Cancer Autoimmune disease (antibody to s, neutrophils, maternal antibody) 19
20 20
21 IFN gamma/il-12 21
22 22
23 23
24 neutrophil 24
25 25
26 ?? 26
27 Leukocyte Adhesion Defect (LAD) CD18 neutrophil?? 27
28 Chronic Granulomatous Disease (CGD) -Oxidative urst -N?? Chediak-Higashi -partial albinism 28
29 neutrophil neutrophil neutrophil 29
30 neutrophil neutrophil neutrophil 30
31 eosinophil neutrophil Don t fit nicely into my pictures Wiskott-Aldrich Small platelets Eczema Infections erminal complement deficiency Neisserial infections reatment one Marrow ransplant Immunoglobulin Replacement SQIG IVIG Antibiotics iologics?? 31
32 References Abbas AK, Lichtman AH, Pillai S. Cellular and molecular immunology. 7th ed. Philadelphia: Elsevier/Saunders; Al-Herz W, ousfiha A, Casanova JL, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Frontiers in immunology 2011;2:54. onilla FA, ernstein IL, Khan DA, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol 2005;94:S1-63. Murphy K, ravers P, Walport M, Janeway C. Janeway's immunobiology. 8th ed. New York: Garland Science; Sompayrac L. How the immune system works. 4th ed. Chichester, West Sussex ; Hoboken, NJ: Wiley-lackwell; Questions?? 32
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