Stiehm's immune deficiencies
Kathleen E. Sullivan (Editor), E. Richard Stiehm (Editor)
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
1 online resource (1157 pages) : illustrations
9780124058606, 0124058604
891400094
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