Primary Immunodeficiency Diseases: A Molecular and Genetic Approach

Primary Immunodeficiency Diseases: A Molecular and Genetic Approach (3 ed.)

Edited by Hans D. Ochs, MD, Dr.med, C. I. Edvard Smith, PhD, and Jennifer M. Puck, MD

Abstract

Primary Immunodeficiency Diseases presents discussions of gene identification, mutation detection, and clinical and research applications for over 100 genetic immune disorders - disorders featuring an increased susceptibility to infections and, in, certain conditions, an increased rate of malignancies and autoimmune disorders. This resource proudly documents the tremendous pace of progress in dissecting the complex immunologic networks responsible for protecting individuals from these disorders.

Bibliographic Information

Publisher:: Oxford University Press

Print Publication Date:: Nov 2013

Print ISBN-13:: 9780195389838

Published online:: Nov 2013

DOI:: 10.1093/med/9780195389838.001.0001

Authors

Hans D. Ochs, MD, Dr.med, editor University of Washington and Seattle Children's Research Institute

C. I. Edvard Smith, PhD, editor Karolinska Institutet, Stockholm, Sweden

Jennifer M. Puck, MD, editor University of California, San Francisco

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Front Matter
- Foreword
- Foreword to the First Edition
- Foreword to the Second Edition
- Contributing Authors
1. Genetically Determined Immunodeficiency Diseases: A PerspectiveC. I. Edvard Smith, Hans D. Ochs and Jennifer M. Puck
2. Genetic Principles and Technologies in the Study of Immune DisordersJennifer M. Puck and Robert L. Nussbaum
3. Mammalian Hematopoietic Development and FunctionGerald J. Spangrude
4. T-Cell DevelopmentJuan Carlos Zúñiga-Pflücker, Rae Yeung, Pam Ohashi and Tak W. Mak
5. Molecular Mechanisms Guiding B-Cell Development: Territorial Administration under Attack in Orleans and WashingtonAntonius G. Rolink and Roxane Tussiwand
6. Signal Transduction by T- and B-Lymphocyte Antigen ReceptorsAnthony DeFranco and Arthur Weiss
7. Lymphoid Organ Development, Cell Trafficking, and Lymphocyte ResponsesSirpa Jalkanen and Marko Salmi
8. Innate ImmunityJordan S. Orange, Michael M. Frank and Stuart E. Turvey
9. Introduction to Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID)Jennifer M. Puck
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 and Chaim Roifman
11. T-Cell Receptor Complex DeficiencyJose R. Regueiro and Maria J. Recio
12. Severe Combined Immunodeficiency Due to Mutations in the CD45 GeneTalala Chatila and Jennifer M. Puck
13. V(D)J Recombination DefectsJean-Pierre de Villartay, Mirjam van der Burg, Klaus Schwarz and Anna Villa
14. Immunodeficiency Due to Defects of Purine Metabolism: Territorial Administration under Attack in Orleans and WashingtonRochelle Hirschhorn, Eyal Grunebaum, Chaim Roifman and Fabio Candotti
15. SCID Due to Defects in T-Cell-Receptor-Associated Protein Kinases (ZAP-70 and Lck)Naomi Taylor and Melissa E. Elder
16. Molecular Basis of Major Histocompatibility Complex Class II DeficiencyWalter Reith, Capucine Picard and Alain Fischer
17. Peptide Transporter Defects in Human Leukocyte Antigen Class I DeficiencyHenri de la Salle, Lionel Donato and Daniel Hanau
18. Reticular DysgenesisWilhelm Friedrich, Manfred Hoenig, Ulrich Pannicke and Klaus Schwarz
19. CD8 DeficiencyTeresa Español and Esther Mancebo
20. CRAC Channelopathies Due to Mutations in ORAI1 and STIM1Stefan Feske
21. Deficiency of FOXN1Claudio Pignata, Anna Fusco and Stefania Amorosi
22. Chronic Mucocutaneous Candidiasis and Susceptibility to Fungal Infections Due to Defects in CARD9 and Dectin-1Bodo Grimbacher
23. Severe Combined Immunodeficiency Due to Absent Coronin-1ALawrence R. Shiow, Kenneth Paris and Jennifer M. Puck
24. Brief Introduction to B-Lymphocyte DefectsC. I. Edvard Smith
25. X-linked Agammaglobulinemia and Autosomal Recessive AgammaglobulinemiaC. I. Edvard Smith and Mary Ellen Conley
26. CD40 and CD40 Ligand DeficienciesLuigi D. Notarangelo, Silvia Giliani and Alessandro Plebani
27. Autosomal Ig CSR Deficiencies Caused by an Intrinsic B-Cell DefectAnne Durandy, Sven Kracker and Alain Fischer
28. Genetic Approach to Common Variable Immunodeficiency and IgA DeficiencyLennart Hammarström
29. Introduction to Syndromes of Immune Dysregulation and AutoimmunityHans D. Ochs and Jennifer M. Puck
30. Autoimmune Lymphoproliferative SyndromeThomas A. Fleisher, Frederic Rieux-Laucat and Jennifer M. Puck
31. Autoimmune Polyglandular Syndrome Type 1Maureen A. Su and Mark S. Anderson
32. Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked InheritanceTroy R. Torgerson, Eleonora Gambineri and Hans D. Ochs
33. Recurrent Fever SyndromesLori Broderick, Daniel L. Kastner and Hal M. Hoffman
34. Introduction to Innate Immunity and Syndromic Primary Immunodeficiency DisordersJean-Laurent Casanova
35. Inherited Disorders of the Interleukin-12–Interleukin-23/Interferon-γ‎ CircuitSteven M. Holland and Jean-Laurent Casanova
36. Inborn Errors of NF-kB Immunity: Genetic, Immunological, and Clinical HeterogeneityCapucine Picard, Jordan S. Orange, Anne Puel, Shen-Ying Zhang and Jean-Laurent Casanova
37. Cartilage-Hair HypoplasiaOuti Mä kitie
38. Hyper-IgE Recurrent Infection SyndromesAlexandra F. Freeman, Bodo Grimbacher, Karin R. Engelhardt, Steven Holland and Jennifer M. Puck
39. Hepatic Veno-Occlusive Disease with ImmunodeficiencyTony Roscioli and Melanie Wong
40. WHIM SyndromeGeorge A. Diaz
41. Pulmonary Alveolar ProteinosisLuigi D. Notarangelo
42. Role Of TMC6 And TMC8 Genes And Ever Proteins In Epidermodysplasia VerruciformisMaciej Lazarczyk, Patricia Cassonnet and Michel Favre
43. Wiskott-Aldrich SyndromeHans D. Ochs and Luigi D. Notarangelo
44. X-Linked Lymphoproliferative DiseasesVolker Schuster and Sylvain Latour
45. DiGeorge Syndrome: A Chromosome 22q11.2 Deletion SyndromeDeborah A. Driscoll and Kathleen E. Sullivan
46. Introduction to Disorders Associated with DNA Repair and Methylation DefectsMark O’Driscoll and Penny A. Jeggo
47. Ataxia-TelangiectasiaLeman Yel Martin F. Lavin and Yosef Shiloh
48. Chromosomal Instability Syndromes Other than Ataxia-TelangiectasiaRolf-Dieter Wegner, James J. German, Krystyna H. Chrzanowska, Martin Digweed and Markus Stumm
49. Immunodeficiency with Centromere Instability and Facial Anomalies (ICF Syndrome)R. Scott Hansen, Corry M. R. Weemaes and Silvère M. van der Maarel
50. Introduction to Granulocyte DisordersKarl Welte, Cornelia Zeidler and David C. Dale
51. Severe Congenital NeutropeniaChristoph Klein
52. Chronic Granulomatous DiseaseDirk Roos, Steven M. Holland and Taco W. Kuijpers
53. Cell Adhesion and Leukocyte Adhesion DefectsAmos Etzioni and Ronen Alon
54. Inherited Hemophagocytic Lymphohistiocytosis SyndromesGeneviève de Saint
55. Genetically Determined Deficiencies of Complement ComponentsKathleen E. Sullivan and Jerry A. Winkelstein
56. Assessment of the Immune SystemFrancisco A. Bonilla and Klaus Warnatz
57. Genetic Aspects of Primary ImmunodeficienciesJennifer M. Puck
58. Immunodeficiency Information ResourcesCrina Samarghitean, Jouni Väliaho and Mauno Vihinen
59. Conventional Therapy of Primary Immunodeficiency DiseasesE. Richard Stiehm and Helen M. Chapel
60. Bone Marrow Transplantation for Primary Immunodeficiency DiseasesRebecca H. Buckley, Despina Moshous and Alain Fischer
61. Gene TherapyFabio Candotti and Alain Fischer
End Matter
- Index

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Primary Immunodeficiency Diseases: A Molecular and Genetic Approach (3 ed.)

Edited by Hans D. Ochs, MD, Dr.med, C. I. Edvard Smith, PhD, and Jennifer M. Puck, MD

Abstract

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Primary Immunodeficiency Diseases: A Molecular and Genetic Approach (3 ed.)

Edited by Hans D. Ochs, MD, Dr.med, C. I. Edvard Smith, PhD, and Jennifer M. Puck, MD

Abstract

Bibliographic Information

Authors

Share Link

Contents