Chapter Outline COMBINED IMMUNODEFICIENCIES Severe Combined Immunodeficiency Other Forms of Combined Immunodeficiency with Variable Presentation MANAGEMENT OF COMBINED IMMUNODEFICIENCY Diagnostic Approach Hematopoietic Stem Cell Transplantation Gene Therapy IMMUNODEFICIENCY SYNDROMES Wiskott-Aldrich…
Chapter Outline FUNCTIONAL GENETICS OF CHILDHOOD CANCER PREDISPOSITION SYNDROMES DYSREGULATION OF CELL DIVISION AND GROWTH DNA REPAIR AND GENOME INSTABILITY ABERRANT GENE EXPRESSION SOMATICALLY ACQUIRED GENE MUTATIONS AND CANCER GENOMICS…
Chapter Outline DESCRIPTIVE EPIDEMIOLOGY International Patterns Age-Specific Incidence and Sex Ratio Ethnic Origin Socioeconomic Status Time Trends Clustering of Leukemia in Space and Time GENETIC FACTORS AND FAMILIAL AGGREGATION Concordance…
Chapter Outline MEMBRANE LIPIDS Lipid Composition Phospholipids Glycolipids and Cholesterol Asymmetric Organization of Lipids in the Bilayer Bilayer Couple Effect Membrane Phosphoinositides Lipid Mobility Lateral Diffusion Lipid Renewal Pathways MEMBRANE…
Chapter Outline PLATELET MORPHOLOGY AND SUBCELLULAR ORGANIZATION PLATELET GENOMICS AND PROTEOMICS ANTITHROMBOTIC COMPONENTS OF THE VESSEL WALL REACTING TO THE BREACH: CELL SURFACE RECEPTORS THAT MEDIATE TETHERING AND ADHESION AND…
Chapter Outline QUALITATIVE DISORDERS Platelet Membrane Glanzmann Thrombasthenia: Defective Platelet Integrin α IIb β 3 Other Integrins in Inherited Platelet Disorders Bernard-Soulier Syndrome: Defective Glycoprotein Ib/IX Complex Platelet-Type von Willebrand…
Chapter Outline BASIC CONCEPTS OF FIBRINOLYSIS COMPONENTS OF THE FIBRINOLYTIC SYSTEM Plasminogen Plasminogen Activators Inhibitors of Fibrinolysis Cellular Receptors in Fibrinolysis THE FIBRINOLYTIC ACTIONS OF PLASMIN Fibrinogen Fibrin Tissue Plasminogen…
Chapter Outline INHERITED BONE MARROW FAILURE SYNDROMES ASSOCIATED WITH PANCYTOPENIA Fanconi Anemia Dyskeratosis Congenita Shwachman-Diamond Syndrome Cartilage-Hair Hypoplasia Pearson Syndrome Familial Marrow Dysfunction INHERITED BONE MARROW FAILURE SYNDROMES ASSOCIATED WITH…
Chapter Outline ACQUIRED HEMORRHAGIC DISORDERS Drug-Induced Bleeding Disseminated Intravascular Coagulation Liver Disease Vitamin K Deficiency Massive Transfusion Coagulopathy Acquired Inhibitors of Coagulation Proteins Acquired Inhibitors to Prothrombin—Hemorrhagic Lupus Anticoagulant Syndrome…
Chapter Outline INTRODUCTION CLINICAL EVALUATION Clinical Presentation of Bleeding Relevant Clinical History Age of Onset Family Bleeding History Medications PHYSICAL EXAMINATION LABORATORY EVALUATION Sample Collection and Technique and Preanalytical Variables…
