Allergy Book Review

Primary Immunodeficiency Diseases—a Molecular and Genetic Approach, 2nd Ed.
Edited By: Hans D. Ochs, C. I. Edvard Smith and Jennifer Puck
ISBN-13: 978-0-19-514774-2

List price: £ 96.00 (about $195.00)
Available From:  Oxford University Press, 2007

Reviewer:
Gary Hellermann, PhD
University of South Florida
Division of Allergy and Immunology

Description:
With more than 120 immunodeficiency disease (IDD) genes currently known and basic research continuing to add to this number, medical practitioners are faced with increasing difficulty in keeping up with the current status of IDD diagnosis and treatment. The first edition of this book, the first comprehensive survey of IDD, appeared in 1999 and was highly acclaimed for usefulness. This second edition presents an expanded group of IDDs and syndromes with a greater depth of knowledge and technology.

Genetic flaws affecting the immune response have been grouped into transcription factors, the T cell receptor and its signaling pathway, chemokines and chemokine receptors responsible for homing of lymphocytes to specific tissues, co-receptor molecules and several others. Increasing knowledge about the signaling pathways, accessory molecules and cells involved in T and B cell interactions provides us with more precise understanding of the molecular nature of IDDs. This knowledge permits the development of more specific and effective drugs and is helping to achieve the goal of customized therapy tailored to individual patients.

Purpose:
Despite the great advances in delineating IDDs at the molecular level, our ability to repair these defects is still limited. Early diagnosis helps persons with IDD but effective intervention will require continued energetic research efforts and this collection of 48 reviews provides the best current knowledge in the field.

Features:
The content is organized into three sections. An overview summarizes current understanding of T and B cell development, signaling pathways, cell trafficking and the genetic principles and technology involved. Part II encompasses the main body of the book and describes specific syndromes from the well-characterized common variable, X-linked severe combined immunodeficiency, DiGeorge and Wiskott-Aldrich to the rarer forms such as Omenn’s and CD 45 deficiency. Each review includes history and background of the disease, a detailed description of the molecular nature of the gene defect, examples of cases from the literature, strategies for accurate diagnosis, laboratory methods, current treatment regimens and evaluation of new therapies. There are also many figures, diagrams and illustrations as well as a comprehensive reference list.

The final section of the book involves assessment and treatment and attempts to show the best strategies for evaluating the immune system and getting the information necessary to make an accurate diagnosis and prognosis. The importance of the family history, key features in the physical exam, appropriate lab tests and effective approaches to specific immunodeficiency disorders are included in this section. The advantages and disadvantages of genetic testing and the future of gene therapy in correcting immunodeficiencies are also discussed. Conventional therapies, as well as bone marrow transplantation, are covered.

Assessment and Audience: 
A comprehensive overview of primary IDD, its molecular basis, diagnosis and treatment is a massive undertaking and this book succeeds in providing that information in a usable form for the practicing physician, the laboratory researcher, and the student seeking an understanding of the pathology of IDD. This 2007 edition should meet the needs of immunologists for some time.