I12CBL51111HOFFMAN_051011143248bw

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Hereditary Fever Disorders (Case studies)   Immunology lecture 12 Hal Hoffman, M.D. Associate Professor of  Pediatrics and Medicine UCSD Division of Allergy,  Immunology, and Rheumatology Rady Children’s Hospital San Diego
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Learning Objectives Recognize the shared clinical and  pathophysiologic features of the hereditary  fever disorders Understand the role of innate immunity in  these disorders and the autoinflammatory  concept Appreciate the potential of translational  research on patient diagnosis and therapy
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Outline     Case The autoinflammatory concept Hereditary fever disorders Clinical features Pathophysiology Therapy
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3 y/o girl with rash after cold exposure
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Cold Urticaria? Acute hives with direct cold exposure Usually presents in adolescents or adults May present with systemic anaphylaxis Involvement of histamine and mast cells
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It’s NOT cold urticaria Rash develops hours after  generalized cold exposure Associated symptoms include fever,  joint and eye symptoms  Antihistamines don’t work Age of onset Family history
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Rash was present at birth  C. Fikkert, M.D.
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32 year old mother with same history Johnstone et al, Ann Allergy 2003
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66 year old grandfather with same rash Shpall et al, Br J Derm
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Skin biopsy of Affected Area Shpall et al, Br J Derm 2004 Skin H & E
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What causes rash  and neutrophil infiltration? Which Cytokines?
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Laboratory Findings Baseline leukocytosis with  increase during episodes Erythrocyte Sedimentation Rate  and C-Reactive Protein elevated No autoantibodies
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Familial Cold Urticaria Presents during infancy / Persists through life Rash develops hours after exposure to cold  No rash with direct cold contact - negative ice  cube test Associated systemic inflammatory symptoms  including fever, joint pain, and conjunctivitis Not classic urticaria - not histamine mediated How do you classify this disease?
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Immunologic Diseases Classical Categories      Immunodeficiency Allergic Diseases Autoimmune Diseases Several other immunologic diseases do not fit nicely into this standard classification system
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Unclassified  Inflammatory Diseases    Gout Crohn’s Disease Sarcoidosis Behcet’s Disease Still’s Disease Juvenile (Systemic onset juvenile idiopathic arthritis) Adult onset Hereditary Angioedema Hereditary Fever disorders
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Hereditary Fever Disorders    Familial Mediterranean Fever (FMF) Hyper Immunoglobulin D with Periodic  Fever Syndrome (HIDS) Tumor Necrosis Factor Receptor  Associated Periodic Syndrome (TRAPS)
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Autoinflammatory Diseases Definition   Disorders with recurrent            episodes of  inflammation  
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This note was uploaded on 09/14/2011 for the course PHARM imm taught by Professor Staff during the Spring '11 term at UCSD.

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