Primary Immunodeficiency Diseases
-10%
portes grátis
Primary Immunodeficiency Diseases
A Molecular and Cellular Approach
Puck,, Jennifer M.; Ochs,, Hans D.; Smith,, C. I. Edvard
Oxford University Press Inc
12/2013
930
Dura
Inglês
9780195389838
15 a 20 dias
2472
Descrição não disponível.
Foreword ; Kurt and Rochelle Hirschhorn ; Part I: OVERVIEW: INTRODUCTION, BASIC GENETICS, AND IMMUNOLOGY ; Chapter 1: Genetically Determined Immunodeficiency Diseases: A Perspective ; C.I. Edvard Smith, Hans D. Ochs and Jennifer M. Puck ; Chapter 2: Genetic Principles and Technologies in the Study of Immune Disorders ; Jennifer M. Puck and Robert L. Nussbaum ; Chapter 3: Mammalian Hematopoietic Development and Function ; Gerald J. Spangrude ; Chapter 4: T Cell Development ; Juan Carlos Zuniga-Pflucker , Rae Yeung, Pam Ohashi, Tak W Mak ; Chapter 5: Molecular Mechanisms guiding B cell development ; Antonius G. Rolink , Roxane Tussiwand ; Chapter 6: Signal Transduction by T and B Lymphocyte Antigen Receptors ; Anthony DeFranco and Arthur Weiss ; Chapter 7: Lymphoid Organ Development, Cell Trafficking, and Lymphocyte Responses ; Sirpa Jalkanen and Marko Salmi ; Chapter 8: Innate Immunity ; Jordan S. Orange, Michael M. Frank, Stuart E. Turvey ; PART II. SYNDROMES ; Chapter 9: Introduction to Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) ; Jennifer M. Puck ; Chapter 10: Severe Combined Immunodeficiency and Combined Immunodeficiency Due To Cytokine Signaling Defects (IL2RG, JAK3, IL7R, IL2RA, JAK3 and STAT5b) ; Jennifer M Puck, Fabio Candotti, Luigi Notarangelo, Chaim Roifman ; Chapter 11: T cell receptor complex deficiency ; Jose R. Regueiro and Maria J. Recio ; Chapter 12: Severe Combined Immunodeficiency Due to Mutations in the CD45 Gene ; Talala Chatila and Jennifer Puck ; Chapter 13: V(D)J Recombination Defects ; Jean-Pierre De Villartay ,Mirjam Van Der Burg ,Klaus Schwarz and Anna Villa ; Chapter 14: Immunodeficiency Due to Defects of Purine Metabolism ; Rochelle Hirschhorn, Eyal Grunebaum, Chaim Roifman, Fabio Candotti ; Chapter 15: SCID due to Defects in T-Cell-Receptor-Associated Protein Kinases (ZAP-70 and Lck) ; Naomi Taylor and Melissa E. Elder ; Chapter 16: Molecular Basis of Major Histocompatibility Complex Class II Deficiency ; Walter Reith, Capucine Picard, Alain Fischer ; Chapter 17: Peptide Transporter Defects in Human Leukocyte Antigen Class I Deficiency ; Henri De La Salle, Lionel Donato, and Daniel Hanau ; Chapter 18: Reticular Dysgenesis ; Wilhelm Friedrich, Manfred Hoenig, Ulrich Pannicke, Klaus Schwarz ; Chapter 19: CD8 Deficiency ; T.Espanol , E. Mancebo ; Chapter 20: CRAC channelopathies due to mutations in ORAI1 and STIM1 ; Stefan Feske ; Chapter 21: Deficiency of FOXN1 ; Claudio Pignata, Anna Fusco, Stefania Amorosi ; Chapter 22: Chronic mucocutaneous candidiasis (CMC) and susceptibility to fungal infections due to defects in CARD9 and Dectin-1 ; Bodo Grimbacher ; Chapter 23: Severe Combined Immunodeficiency Due to Absent ; Coronin-1A ; Lawrence R. Shiow, Kenneth Paris, Jennifer M. Puck ; Chapter 24: Brief introduction to B lymphocyte defects ; C. I. Edvard Smith ; Chapter 25: X-linked Agammaglobulinemia and Autosomal Recessive Agammaglobulinemia ; C. I. Edvard Smith & Mary Ellen Conley ; Chapter 26: CD40 and CD40 Ligand Deficiencies ; Luigi D. Notarangelo, Silvia Giliani, and Alessandro Plebani ; Chapter 27: Autosomal Ig CSR-deficiencies Caused by an Intrinsic B Cell Defect ; Anne Durandy, Sven Kracker, Pauline Gardes, and Alain Fischer ; Chapter 28: Genetic Approach to Common Variable Immunodeficiency and IgA Deficiency ; Lennart Hammarstrom ; Chapter 29: Introduction to syndromes of immune dysregulation and autoimmunity ; Hans D. Ochs, Jennifer M. Puck ; Chapter 30: Autoimmune Lymphoproliferative Syndrome (ALPS) ; Thomas A. Fleisher,Frederic Rieux-Laucat, Jennifer M. Puck ; Chapter 31: Autoimmune Polyglandular Syndrome Type 1 ; Maureen A. Su, and Mark S. Anderson ; Chapter 32: Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked Inheritance ; Troy R. Torgerson, Eleonora Gambineri, Steven F. Ziegler, and Hans D. Ochs ; Chapter 33: Recurrent Fever Syndromes ; Lori Broderick, Daniel L. Kastner, Hal M. Hoffman ; Chapter 34: Introduction to Innate immunity and syndromic primary immunodeficiency disorders ; Jean-Laurent Casanova ; Chapter 35: Inherited Disorders of the Interleukin- 12/23-Interferon Gamma Circuit ; Steven M. Holland and Jean-Laurent Casanova ; Chapter 36: Inborn errors of NF-kB immunity: genetic, immunological and clinical heterogeneity ; Capucine Picard, Jordan S Orange, Anne Puel, Shen-Ying Zhang and Jean-Laurent Casanova ; Chapter 37: Cartilage-Hair Hypoplasia ; Outi Makitie ; Chapter 38: Hyper-IgE Recurrent Infection Syndromes ; Alexandra F Freeman, Bodo Grimbacher, Karin R Engelhardt, Steven Holland, and Jennifer M Puck ; Chapter 39: Hepatic Veno-Occlusive Disease with Immunodeficiency (VODI) ; Tony Roscioli, Melanie Wong ; Chapter 40: WHIM Syndrome ; George A. Diaz ; Chapter 41: Pulmonary alveolar proteinosis ; Luigi D. Notarangelo ; Chapter 42: Role of TMC6 and TMC8 genes and EVER proteins in epidermodysplasia verruciformis ; Maciej Lazarczyk, Patricia Cassonnet, Michel Favre ; Chapter 43: Wiskott-Aldrich Syndrome ; Hans D. Ochs and Luigi D. Notarangelo ; Chapter 44: X-Linked Lymphoproliferative Diseases ; Volker Schuster and Sylvain Latour ; Chapter 45: DiGeorge Syndrome: A Chromosome 22q11. 2 Deletion Syndrome ; Deborah A. Driscoll and Kathleen E. Sullivan ; Chapter 46: Introduction to Disorders associated with DNA repair and methylation defects ; Mark O'Driscoll and Penny A. Jeggo ; Chapter 47: Ataxia-Telangiectasia ; Leman Yel, Martin F. Lavin and Yosef Shiloh ; Chapter 48: Chromosomal Instability Syndromes Other Than Ataxia-Telangiectasia ; Rolf-Dieter Wegner, James J. German, Krystyna H. Chrzanowska, Martin Digweed, and Markus Stumm ; Chapter 49: Immunodeficiency with Centromere Instability and Facial Anomalies (ICF syndrome) ; R. Scott Hansen,Corry M.R. Weemaes,Silvere M. van der Maarel ; Chapter 50: Introduction to Granulocyte Disorders ; Karl Welte Cornelia Zeidler and David C. Dale ; Chapter 51: Severe congenital neutropenia ; Christoph Klein ; Chapter 52: Chronic Granulomatous Disease ; Dirk Roos, Steven M. Holland and Taco W. Kuijpers ; Chapter 53: Cell Adhesion and Leukocyte Adhesion Defects ; Amos Etzioni, Ronen Alon ; Chapter 54: Inherited Hemophagocytic lymphohistiocytosis Syndromes (HLH) ; Genevieve De Saint Basile ; Chapter 55: Genetically determined deficiencies of complement components ; Kathleen E. Sullivan and Jerry A Winkelstein ; PART III. ASSESSMENT AND TREATMENT OF PRIMARY IMMUNODEFICIENCIES ; Chapter 56: Assessment of the Immune System ; Francisco A. Bonilla, and Klaus Warnatz ; Chapter 57: Genetic Aspects of Primary Immunodeficiencies ; Jennifer M. Puck ; Chapter 58: Immunodeficiency Information Resources ; Crina Samarghitean, Jouni Valiaho, Mauno Vihinen, Docent ; Chapter 59: Conventional Therapy of Primary Immunodeficiency Diseases ; E. Richard Stiehm and Helen M. Chapel ; Chapter 60: Bone Marrow Transplantation for Primary Immunodeficiency Diseases ; Rebecca H. Buckley, Despina Moshous ; Chapter 61: Gene Therapy ; Fabio Candotti, Alain Fischer
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Foreword ; Kurt and Rochelle Hirschhorn ; Part I: OVERVIEW: INTRODUCTION, BASIC GENETICS, AND IMMUNOLOGY ; Chapter 1: Genetically Determined Immunodeficiency Diseases: A Perspective ; C.I. Edvard Smith, Hans D. Ochs and Jennifer M. Puck ; Chapter 2: Genetic Principles and Technologies in the Study of Immune Disorders ; Jennifer M. Puck and Robert L. Nussbaum ; Chapter 3: Mammalian Hematopoietic Development and Function ; Gerald J. Spangrude ; Chapter 4: T Cell Development ; Juan Carlos Zuniga-Pflucker , Rae Yeung, Pam Ohashi, Tak W Mak ; Chapter 5: Molecular Mechanisms guiding B cell development ; Antonius G. Rolink , Roxane Tussiwand ; Chapter 6: Signal Transduction by T and B Lymphocyte Antigen Receptors ; Anthony DeFranco and Arthur Weiss ; Chapter 7: Lymphoid Organ Development, Cell Trafficking, and Lymphocyte Responses ; Sirpa Jalkanen and Marko Salmi ; Chapter 8: Innate Immunity ; Jordan S. Orange, Michael M. Frank, Stuart E. Turvey ; PART II. SYNDROMES ; Chapter 9: Introduction to Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) ; Jennifer M. Puck ; Chapter 10: Severe Combined Immunodeficiency and Combined Immunodeficiency Due To Cytokine Signaling Defects (IL2RG, JAK3, IL7R, IL2RA, JAK3 and STAT5b) ; Jennifer M Puck, Fabio Candotti, Luigi Notarangelo, Chaim Roifman ; Chapter 11: T cell receptor complex deficiency ; Jose R. Regueiro and Maria J. Recio ; Chapter 12: Severe Combined Immunodeficiency Due to Mutations in the CD45 Gene ; Talala Chatila and Jennifer Puck ; Chapter 13: V(D)J Recombination Defects ; Jean-Pierre De Villartay ,Mirjam Van Der Burg ,Klaus Schwarz and Anna Villa ; Chapter 14: Immunodeficiency Due to Defects of Purine Metabolism ; Rochelle Hirschhorn, Eyal Grunebaum, Chaim Roifman, Fabio Candotti ; Chapter 15: SCID due to Defects in T-Cell-Receptor-Associated Protein Kinases (ZAP-70 and Lck) ; Naomi Taylor and Melissa E. Elder ; Chapter 16: Molecular Basis of Major Histocompatibility Complex Class II Deficiency ; Walter Reith, Capucine Picard, Alain Fischer ; Chapter 17: Peptide Transporter Defects in Human Leukocyte Antigen Class I Deficiency ; Henri De La Salle, Lionel Donato, and Daniel Hanau ; Chapter 18: Reticular Dysgenesis ; Wilhelm Friedrich, Manfred Hoenig, Ulrich Pannicke, Klaus Schwarz ; Chapter 19: CD8 Deficiency ; T.Espanol , E. Mancebo ; Chapter 20: CRAC channelopathies due to mutations in ORAI1 and STIM1 ; Stefan Feske ; Chapter 21: Deficiency of FOXN1 ; Claudio Pignata, Anna Fusco, Stefania Amorosi ; Chapter 22: Chronic mucocutaneous candidiasis (CMC) and susceptibility to fungal infections due to defects in CARD9 and Dectin-1 ; Bodo Grimbacher ; Chapter 23: Severe Combined Immunodeficiency Due to Absent ; Coronin-1A ; Lawrence R. Shiow, Kenneth Paris, Jennifer M. Puck ; Chapter 24: Brief introduction to B lymphocyte defects ; C. I. Edvard Smith ; Chapter 25: X-linked Agammaglobulinemia and Autosomal Recessive Agammaglobulinemia ; C. I. Edvard Smith & Mary Ellen Conley ; Chapter 26: CD40 and CD40 Ligand Deficiencies ; Luigi D. Notarangelo, Silvia Giliani, and Alessandro Plebani ; Chapter 27: Autosomal Ig CSR-deficiencies Caused by an Intrinsic B Cell Defect ; Anne Durandy, Sven Kracker, Pauline Gardes, and Alain Fischer ; Chapter 28: Genetic Approach to Common Variable Immunodeficiency and IgA Deficiency ; Lennart Hammarstrom ; Chapter 29: Introduction to syndromes of immune dysregulation and autoimmunity ; Hans D. Ochs, Jennifer M. Puck ; Chapter 30: Autoimmune Lymphoproliferative Syndrome (ALPS) ; Thomas A. Fleisher,Frederic Rieux-Laucat, Jennifer M. Puck ; Chapter 31: Autoimmune Polyglandular Syndrome Type 1 ; Maureen A. Su, and Mark S. Anderson ; Chapter 32: Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked Inheritance ; Troy R. Torgerson, Eleonora Gambineri, Steven F. Ziegler, and Hans D. Ochs ; Chapter 33: Recurrent Fever Syndromes ; Lori Broderick, Daniel L. Kastner, Hal M. Hoffman ; Chapter 34: Introduction to Innate immunity and syndromic primary immunodeficiency disorders ; Jean-Laurent Casanova ; Chapter 35: Inherited Disorders of the Interleukin- 12/23-Interferon Gamma Circuit ; Steven M. Holland and Jean-Laurent Casanova ; Chapter 36: Inborn errors of NF-kB immunity: genetic, immunological and clinical heterogeneity ; Capucine Picard, Jordan S Orange, Anne Puel, Shen-Ying Zhang and Jean-Laurent Casanova ; Chapter 37: Cartilage-Hair Hypoplasia ; Outi Makitie ; Chapter 38: Hyper-IgE Recurrent Infection Syndromes ; Alexandra F Freeman, Bodo Grimbacher, Karin R Engelhardt, Steven Holland, and Jennifer M Puck ; Chapter 39: Hepatic Veno-Occlusive Disease with Immunodeficiency (VODI) ; Tony Roscioli, Melanie Wong ; Chapter 40: WHIM Syndrome ; George A. Diaz ; Chapter 41: Pulmonary alveolar proteinosis ; Luigi D. Notarangelo ; Chapter 42: Role of TMC6 and TMC8 genes and EVER proteins in epidermodysplasia verruciformis ; Maciej Lazarczyk, Patricia Cassonnet, Michel Favre ; Chapter 43: Wiskott-Aldrich Syndrome ; Hans D. Ochs and Luigi D. Notarangelo ; Chapter 44: X-Linked Lymphoproliferative Diseases ; Volker Schuster and Sylvain Latour ; Chapter 45: DiGeorge Syndrome: A Chromosome 22q11. 2 Deletion Syndrome ; Deborah A. Driscoll and Kathleen E. Sullivan ; Chapter 46: Introduction to Disorders associated with DNA repair and methylation defects ; Mark O'Driscoll and Penny A. Jeggo ; Chapter 47: Ataxia-Telangiectasia ; Leman Yel, Martin F. Lavin and Yosef Shiloh ; Chapter 48: Chromosomal Instability Syndromes Other Than Ataxia-Telangiectasia ; Rolf-Dieter Wegner, James J. German, Krystyna H. Chrzanowska, Martin Digweed, and Markus Stumm ; Chapter 49: Immunodeficiency with Centromere Instability and Facial Anomalies (ICF syndrome) ; R. Scott Hansen,Corry M.R. Weemaes,Silvere M. van der Maarel ; Chapter 50: Introduction to Granulocyte Disorders ; Karl Welte Cornelia Zeidler and David C. Dale ; Chapter 51: Severe congenital neutropenia ; Christoph Klein ; Chapter 52: Chronic Granulomatous Disease ; Dirk Roos, Steven M. Holland and Taco W. Kuijpers ; Chapter 53: Cell Adhesion and Leukocyte Adhesion Defects ; Amos Etzioni, Ronen Alon ; Chapter 54: Inherited Hemophagocytic lymphohistiocytosis Syndromes (HLH) ; Genevieve De Saint Basile ; Chapter 55: Genetically determined deficiencies of complement components ; Kathleen E. Sullivan and Jerry A Winkelstein ; PART III. ASSESSMENT AND TREATMENT OF PRIMARY IMMUNODEFICIENCIES ; Chapter 56: Assessment of the Immune System ; Francisco A. Bonilla, and Klaus Warnatz ; Chapter 57: Genetic Aspects of Primary Immunodeficiencies ; Jennifer M. Puck ; Chapter 58: Immunodeficiency Information Resources ; Crina Samarghitean, Jouni Valiaho, Mauno Vihinen, Docent ; Chapter 59: Conventional Therapy of Primary Immunodeficiency Diseases ; E. Richard Stiehm and Helen M. Chapel ; Chapter 60: Bone Marrow Transplantation for Primary Immunodeficiency Diseases ; Rebecca H. Buckley, Despina Moshous ; Chapter 61: Gene Therapy ; Fabio Candotti, Alain Fischer
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