Stiehm's immune deficiencies (eBook, 2014) [WorldCat.org]
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Stiehm's immune deficiencies

Author: Kathleen E Sullivan; E Richard Stiehm
Publisher: London, England : Elsevier, 2014. ©2014
Edition/Format:   eBook : Document : EnglishView all editions and formats
Summary:
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, molecular abnormalities, newborn screening, and current therapies. Provides practical guidance to practitioners dealing with the day-to-day  Read more...
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Genre/Form: Electronic books
Additional Physical Format: Print version:
Stiehm's immune deficiencies.
London, England : Elsevier, ©2014
xxii, 1134 pages
(OCoLC)880499706
Material Type: Document, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: Kathleen E Sullivan; E Richard Stiehm
ISBN: 9780124058606 0124058604
OCLC Number: 891400094
Description: 1 online resource (1157 pages) : illustrations
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.
Other Titles: Immune deficiencies
Responsibility: edited by Kathleen E. Sullivan, E. Richard Stiehm.

Abstract:

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, molecular abnormalities, newborn screening, and current therapies. Provides practical guidance to practitioners dealing with the day-to-day issues of diagnosis and management of immune deficient patients Covers both clinical management and scientific advances in one place Includes newly described disorders in various perio.

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"...a detailed, high-quality book on the diagnosis and management of patients with immune deficiency syndromes. It addresses issues of patient care as well as current research data, and presents Read more...

 
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