Stiehm's immune deficiencies /

Stiehm''s Immune Deficiencies focuses on immunodeficiencies in children and adults. This book covers the many advances in the study of immunodeficiency. Stiehm''s Immune Deficiencies includes 62 chapters covering topics such as newly described syndromes, genetic diagnosis, molecu...

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Bibliographic Details
Call Number:Libro Electrónico
Other Authors: Sullivan, Kathleen E. (Editor), Stiehm, E. Richard (Editor)
Format: Electronic eBook
Language:Inglés
Published: London, England : Elsevier, 2014.
Subjects:
Immunologic diseases.
Immunodeficiency.
Immunological deficiency syndromes.
Immunologic Deficiency Syndromes
Immune System Diseases
Maladies immunologiques.
Immunod�eficience.
Syndromes de d�eficit immunitaire.
TECHNOLOGY & ENGINEERING > Agriculture > Animal Husbandry.
Immunodeficiency
Immunologic diseases
Immunological deficiency syndromes
Online Access:Texto completo
Table of Contents:
  • Front Cover; Stiehm's Immune Deficiencies; Copyright Page; Contents; Preface; Acknowledgments; List of Contributors; 1 General Considerations; 1 Common Presentations and Diagnostic Approaches; Prevalence and Demographics; Recurrent Infections; Recurrent "Normal" Infections; Recurrent "Abnormal" Infections; Sentinel Infections; Herpes Simplex Encephalitis; Epstein-Barr Virus; Cytomegalovirus; Papilloma Virus (Warts); Mycobacterium; Candida; Aspergillus; Gram-Negative Rods; Cutaneous Infections; Chronic Diarrhea; Short Stature with Infections; Malignancies; Neutropenia; References.
  • Forms of InheritanceX-Linked Inheritance; Autosomal Recessive Inheritance; Autosomal Dominant Inheritance; Genomic Instability; Reversion of Mutations; Basic Principles of Genetic Testing; Point Mutations; Silent Mutation; Missense Mutation; Nonsense Mutation; Reversion Mutation; Insertion/Deletion Mutations; Mutations in Regulatory Regions; Germline vs Somatic Mutations; Haploinsufficiency; Dominant Negative Mutations; Gain-of-Function Mutations; Copy Number Variants; DNA Sequencing; Sanger Sequencing; Next-Generation or Massively Parallel Sequencing; Nomenclature; References.
  • 2 Primary Immune DeficienciesA: T Cell Defects; 4 Severe Combined Immunodeficiencies; Introduction; Specific Severe Combined Immunodeficiencies; X-Linked Severe Combined Immunodeficiency; Definition; Genetics; Pathogenesis; Clinical Presentation; Diagnostics; Management; Hematopoietic Stem Cell Transplantation (HSCT); Gene Therapy; Prognosis; JAK3 Deficiency; Definition; Genetics; Pathogenesis; Clinical Presentation; Diagnostics; Management; Prognosis; Adenosine Deaminase Deficiency; Definition; Genetics; Pathogenesis; Clinical Presentation; Early-Onset Immunodeficiency.

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