Book Review

Primary Immunodeficiency Diseases: A molecular and genetic approach

N Engl J Med 1999; 340:2009June 24, 1999

Article

Primary Immunodeficiency Diseases: A molecular and genetic approach
Edited by Hans D. Ochs, C.I. Edvard Smith, and Jennifer M. Puck. 501 pp., illustrated. New York, Oxford University Press, 1999. $139.50. ISBN: 0-19-510486-2

The heroic efforts of Harvard chemist E.J. Cohn in pioneering the fractionation of albumin from plasma for delivery to the battlefields of World War II are widely known. With the end of the war these efforts were diversified, and by the late 1940s a new fraction had been prepared — the gamma globulins. Containing the antibodies for resisting disease, this fraction was soon used to confer passive immunity to measles and poliomyelitis, the two most feared viral infections of the day. The end of the war also saw the widespread introduction of antibiotics into clinical practice, and by the early 1950s, pediatricians were beginning to treat children with recurrent infections, often from the same organism. Before the use of antibiotics, children had perished on the first encounter with a pathogen. Recognizing the role of gamma globulins in the resistance to disease and armed with new methods for the separation and analysis of plasma, these pediatricians soon reported remarkable cases of children with recurrent infections and a complete absence of gamma globulin. The field of immunodeficiency was born.

In the period of less than 50 years since these initial patients with agammaglobulinemia were described, myriad inherited diseases of the immune system have been discovered. Amazingly, the cellular and molecular bases of most of these disorders have now been discovered — a powerful demonstration of the ability of modern science to elucidate disease in cellular and molecular terms. Primary Immunodeficiency Diseases discusses these disorders in a timely, comprehensive, and thoughtful fashion. Despite the complexity of the subject matter, this book will appeal to a wide audience of students, residents, and primary care physicians involved in the care of patients with immunodeficiency diseases, scientists in training who are involved in defining the pathogenesis of such diseases, and specialists attempting to keep abreast of this rapidly progressing field.

The book is organized into three sections, including an overview of the scientific foundation of our current understanding of the developing immune system. This overview has enough detail to permit a thorough comprehension of the pathophysiology of the individual syndromes discussed later in the book. Despite the rather arcane terminology often used to describe immunologic investigation, this section does a superb job of providing the scientific background required for an understanding of the discussions that follow, without immersing the reader in unnecessary details.

The individual sections on specific diseases are well organized and succinct yet provide sufficient detail to satisfy the reader. Although many multiauthored books are disjointed accounts, the editors of this book have carefully avoided this problem. There is ample cross-referencing among the chapters, and considerable effort has been made to exclude repetitious or pedantic material. The final section of the book, on clinical assessment and treatment, is well thought out and contains important sections on new therapeutic approaches, including an excellent account of the state of the art of gene therapy for immunodeficiency diseases.

Perhaps nowhere in medicine is Archibald Garrod's concept of “the lessons of rare maladies” more elegantly demonstrated than in the case of the primary immunodeficiency diseases. Most of our current understanding of how the human immune system functions has been derived from the lessons learned from patients with these rare disorders. With this exciting and useful book as a guide, the interested reader will be well informed as to the current clinical state of affairs and the biologic advances that will continue to be made by studying these diseases.

Jonathan D. Gitlin, M.D.
Washington University School of Medicine, St. Louis, MO 63110