Book Review

Primary Immunodeficiency Diseases: A Molecular and Genetic Approach

N Engl J Med 2007; 357:201-202July 12, 2007

Article

Primary Immunodeficiency Diseases: A Molecular and Genetic Approach
Second edition. Edited by Hans D. Ochs, C.I. Edvard Smith, and Jennifer M. Puck. 726 pp., illustrated. New York, Oxford University Press, 2007. $175. ISBN: 978-0-19-514774-2

Studies of primary immunodeficiency diseases have had a critical role in expanding our understanding of the immune system and in the development of new treatments that have applications beyond immunodeficiency diseases. Robert A. Good, in the foreword to the first edition of this book, writes, “Analysis of each of the immune system diseases in its own way represents the molecular interpretation of an informative experiment of nature. In the aggregate, these analyses help us understand more deeply how man can exist free of infection while living in a veritable sea of microorganisms.” The impact of these disorders on our understanding of the immune system continues because the portfolio of immunodeficiency disorders now contains more than 140 different “experiments of nature,” many of which have been connected to underlying genetic defects.

The second edition of Primary Immunodeficiency Diseases builds on the strength of the first edition by adding almost 50% more content, which deals primarily with new categories of disease — particularly those associated with immune dysregulation. In addition, many more color plates illustrate examples of clinical manifestations and immunopathologic conditions that are associated with immunodeficiencies. As in the first edition of the book, the editors asked the authors to follow a pattern in structuring their chapters; they discuss many aspects of the diseases, including clinical and pathologic manifestations, laboratory findings, the molecular basis, diagnosis and treatment, and the prognosis for patients. Many of the authors also describe animal models of the diseases, with discussions of their uses and limitations.

The first section of the book is an overview of the molecular bases of the primary immunodeficiencies. Included in this section is a complete outline (Table 1.1) that briefly characterizes all the known immunodeficiency diseases. The authors of the chapter on the ontogeny of lymphoid organs emphasize murine models but also discuss what we know about these structures in humans. Rounding out this section is an informative new chapter titled “Lymphoid Organ Development, Cell Trafficking, and Lymphocyte Responses.”

The clinical chapters are the major focus of this text, and the new presentations of disorders of immune dysregulation — including the IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome), APECED (autoimmune polyendocrinopathy, candidiasis, ectodermal dysplasia), and hemophagocytic syndromes — join another new chapter on the periodic fever syndromes. There are new chapters on the range of defects that cause severe combined immunodeficiency and the mechanisms that cause hyper-IgM syndromes. The final section, which covers diagnosis and therapy, contains a thoroughly revised chapter on the promise, current limitations, and unanticipated complications of gene therapy.

This latest edition of Primary Immunodeficiency Diseases emphasizes the molecular bases of these disorders, but there are also thorough discussions of their clinical aspects, and these will make the book an important addition to the library of any physician who treats patients with primary immunodeficiencies. We endorse the comment by Max D. Cooper, made in his foreword, that “this newly updated book provides a remarkably comprehensive and clinically useful source of information about this challenging group of disorders.”

Thomas A. Fleisher, M.D.
NIH Clinical Center, Bethesda, MD 20892
tfleisher@mail.nih.gov

Mark Ballow, M.D.
University at Buffalo, State University of New York, Buffalo, NY 14222