Ochs H.D., Smith C.I.E., Puck J.M. (eds.) Primary Immunodeficiency Diseases: A Molecular and Genetic Approach

2nd edition. — Oxford University Press, 2007. — 745 p.The second edition of 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 icreased rate of malignancies and autoimmune disorders. Since the publication of the first edition, a flurry of new disease entities has been defined and new treatment regimens have been introduced, the most spectacular being successful treatment by gene therapy for two genotypes of combined immunodeficiency. The first edition marked a historic turning point in the field of immunodeficiencies, demonstrating that many of the disorders of the immune systam could be understood at a molecular level. This new edition can proudly document the tremendous pace of progress in dissecting the complex immunologic networks responsible for protecting individuals from these disorders.Overview:
Genetically Determined Immunodeficiency Diseases: A Perspective
Genetic Principles and Technologies in the Study of Immune Disorders
Mammalian Hematopoietic Development and Function
T Cell Development
Molecular Mechanisms Guiding B Cell Development
Signal Transduction by T and B Lymphocyte
Lymphoid Organ Development, Cell Trafficking, and Lymphocyte Responses
Phagocytic System
Syndromes:
X-Linked Severe Combined Immunodeficiency
Autosomal Recessive Severe Combined Immunodeficiency Due to Defects in Cytokine Signaling Pathways
V(D)J Recombination Defects
Immunodeficiency Due to Defects of Purine Metabolism
Severe Combined Immunodeficiency Due to Mutations in the CD45 Gene
Severe Combined Immunodeficiency Due to Defects in T Cell Receptor–Associated Protein Kinases
Human Interleukin-2 Receptor α-Deficiency
CD3 and CD8 Deficiencies
Molecular Basis of Major Histocompatibility Complex Class II Deficiency
Peptide Transporter Defects in Human Leukocyte Antigen Class I Deficiency
CD40, CD40 Ligand, and the Hyper-IgM Syndrome
Autosomal Hyper-IgM Syndromes Caused by an Intrinsic B Cell Defect
X-linked Agammaglobulinemia: A Disease of Btk Tyrosine Kinase
Autosomal Recessive Agammaglobulinemia
Genetic Approach to Common Variable Immunodeficiency and IgA Deficiency
Autoimmune Lymphoproliferative Syndrome
Autoimmune Polyendocrinopathy, Candidiasis, Ectodermal Dystrophy
Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked Inheritance
Periodic Fever Syndromes
Inherited Disorders of the Interleukin-12/23–Interferon Gamma Axis
Ataxia-Telangiectasia
Chromosomal Instability Syndromes Other Than Ataxia-Telangiectasia
Wiskott-Aldrich Syndrome
X-Linked Lymphoproliferative Disease Due to Defects of SH2D1A
DiGeorge Syndrome: A Chromosome 22q11.2 Deletion Syndrome
Hyper-IgE Recurrent Infection Syndromes
Immunodeficiency with Centromere Instability and Facial Anomalies
Immunodeficiencies with Associated Manifestations of Skin, Hair, Teeth, and Skeleton
Chronic Granulomatous Disease
Cell Adhesion and Leukocyte Adhesion Defects
Cyclic and Congenital Neutropenia Due to Defects in Neutrophil Elastase
Chediak-Higashi Syndrome
Inherited Hemophagocytic Syndromes
Genetically Determined Deficiencies of the Complement System
Assessment and Treatment:
Assessment of the Immune System
Genetic Aspects of Primary Immunodeficiencies
Immunodeficiency Information Services
Conventional Therapy of Primary Immunodeficiency Diseases
Bone Marrow Transplantation for Primary Immunodeficiency Diseases
Gene Therapy