Immune Deficiency Foundation Patient & Family Handbook For Primary Immunodeficiency Diseases This book contains general medical information which cannot be applied safely to any individual case. Medical knowledge and practice can change rapidly. Therefore, this book should not be used as a substitute for professional medical advice. SIXTH EDITION COPYRIGHT 1987, 1993, 2001, 2007, 2013, 2019 IMMUNE DEFICIENCY FOUNDATION Copyright 2019 by Immune Deficiency Foundation, USA. Readers may redistribute this article to other individuals for non-commercial use, provided that the text, html codes, and this notice remain intact and unaltered in any way. The Immune Deficiency Foundation Patient & Family Handbook may not be resold, reprinted or redistributed for compensation of any kind without prior written permission from the Immune Deficiency Foundation. If you have any questions about permission, please contact: Immune Deficiency Foundation, 110 West Road, Suite 300, Towson, MD 21204, USA; or by telephone at 800-296-4433. Immune Deficiency Foundation Patient & Family Handbook For Primary Immunodeficiency Diseases 6th Edition The development of this publication was supported by Shire, now Takeda. 110 West Road, Suite 300 Towson, MD 21204 800.296.4433 www.primaryimmune.org [email protected] Editors Mark Ballow, MD Jennifer Heimall, MD Elena Perez, MD, PhD M. Elizabeth Younger, Executive Editor Children’s Hospital of Philadelphia Allergy Associates of the CRNP, PhD University of South Florida Palm Beaches Johns Hopkins University Jennifer Leiding, MD School of Medicine Kristin Epland, FNP-C University of South Florida Marc Riedl, MD, MS Midwest Immunology Clinic University of California, San Diego Contributors Linda Anastasia, BSN, RN, Kristin Epland, FNP-C Roger Kobayashi, MD Marc Riedl, MD, MS CPN, IgCN Midwest Immunology Clinic Allergy, Asthma and University of California, San Diego The Children’s Hospital of Immunology Associates Philadelphia Elise Ferre, PA-C, MSHS, Sergio Rosenzweig, MD, PhD MPH Lisa Kobrynski, MD National Institutes of Health John Atkinson, MD National Institutes of Health Emory University Hospital Washington University in St. Louis Jack Routes, MD Thomas Fleisher, MD, Donald Kohn, MD Children’s Hospital of Wisconsin Mark Ballow, MD FAAAAI University of California, Los Angeles Cristiane Santos, MD University of South Florida National Institutes of Health Hrish Kulkarni, MD, MSCI National Institutes of Health Leonard Bielory, MD Lisa Forbes Satter, MD Washington University in St. Louis Universidade de São Paulo Robert Wood Johnson University Texas Children’s Hospital Hospital Caroline Kuo, MD William Shearer, MD, PhD Alexandra Freeman, MD University of California, Los Angeles Texas Children’s Hospital Jack Bleesing, MD, PhD National Institutes of Health Cincinnati Children’s Hospital Monica Lawrence, MD Morgan Similuk, MD Medical Center Ramsay Fuleihan, MD University of Virginia National Institute of Health Ann & Robert H. Lurie Children’s Howard Lederman, MD, PhD Maria Slack, MD William Blouin, MSN, ARNP, Hospital Johns Hopkins University University of Rochester Medical CPNP School of Medicine Center, Allergy, Immunology and Allergy and Immunology Care Asal Gharib, MD University of California, Irvine Rheumatology Center of South Florida Jennifer Leiding, MD University of South Florida Ricardo Sorensen, MD Rebecca Buckley, MD Sudhir Gupta, MD, PhD University of California, Irvine Children’s Hospital New Orleans Duke University School of Medicine Michail Lionakis, MD, ScD National Institutes of Health Mark Stein, MD, FACP, Sharat Chandra, MD, David Hagin, MD, PhD FACAAI, FAAAAI MRCPCH University of Tel Aviv Patricia Lugar, MD, MS Allergy Associates of the Palm Cincinnati Children’s Hospital Joud Hajjar, MD, MS Duke University School of Medicine Beaches Medical Center Texas Children’s Hospital Peter Mannon, MD, MPH Kathleen Sullivan, MD, PhD Shanmuganathan Gretchen Harmon, MD The University of Alabama at Children’s Hospital of Philadelphia Chandrakasan, MD Nemours/Alfred I. duPont Hospital Birmingham Children’s Healthcare of Atlanta - for Children Maha Syed, MD Emory Children’s Center M. Louise Markert, PhD, MD Texas Children’s Hospital Jennifer Heimall, MD Duke University School of Medicine Javier Chinen, MD, PhD Children’s Hospital of Philadelphia Troy Torgerson, MD, PhD Texas Children’s Hospital Rebecca Marsh, MD Seattle Children’s Hospital Colleen Hill Dansereau, MSN, Cincinnati Children’s Hospital and Research Institute Medical Center Ivan Chinn, MD RN, CPN, CPHON Texas Children’s Hospital Dana-Farber Boston Children’s Gulbu Uzel, MD Matthew Norris, MD National Institutes of Health Nichole Clark Cancer and Blood Disorders Center Overlook Medical Center Immune Deficiency Foundation Mary Hintermeyer, APNP V. Koneti Rao, MD, FRCPA Luigi Notarangelo, MD National Institutes of Health Charlotte Cunningham- Children’s Hospital of Wisconsin National Institutes of Health Rundles, MD, PhD James Verbsky, MD PhD Steven Holland, MD Hans Ochs, MD Mt. Sinai Medical Center Medical College of Wisconsin National Institutes of Health Seattle Children’s Hospital and Research Institute Blachy Dávila Saldaña, MD Yvonne Hsieh, MD Kelli Williams, MD, MPH Children’s National Medical Center Medical University of South University of California, Irvine Sung-Yun Pai, MD and Research Institute Carolina Dana-Farber Boston Children’s Soma Jyonouchi, MD Cancer and Blood Disorders Center Magee DeFelice, MD, FAAP Children’s Hospital of Philadelphia Elizabeth Wisner, MD Nemours/Alfred I. duPont Hospital Children’s Hospital New Orleans Suhag Parikh, MD for Children Harumi Jyonouchi, MD Duke University Medical Center Saint Peter’s University Hospital M. Elizabeth Younger, CRNP, Ottavia Delmonte, MD PhD Niraj Patel, MD National Institutes of Health Mike Keller, MD Johns Hopkins University School of Levine Children’s Hospital Children’s National Medical Center Medicine Carla Duff, CPNP, MSN, and Research Institute Brian Rath, JD CCRP, IgCN Immune Deficiency Foundation University of South Florida Associate Editors Katherine A. Antilla, MAEd Rachel Delaney Adam Freestone Immune Deficiency Foundation Immune Deficiency Foundation Immune Deficiency Foundation John G. Boyle Brian Fitzek Kara Moran Immune Deficiency Foundation Immune Deficiency Foundation Immune Deficiency Foundation Preface The Immune Deficiency Foundation (IDF) is dedicated to improving the diagnosis, treatment, and quality of life of people affected by primary immunodeficiencies (PI) through fostering a community empowered by advocacy, education, and research. Since it was founded in 1980, one of the ways IDF has advanced these aims is through its publications, such as this IDF Patient & Family Handbook, to provide reliable information about the often unfamiliar diseases to individuals with PI, their families and their healthcare providers. The first edition of the Handbook was published in 1987, and since then tens of thousands of copies have been distributed and it has been translated in part or in whole into at least 13 different languages. The first edition was composed of nine chapters covering five types of PI. By the time the 5th edition was produced, the content of the Handbook by 33 chapters and featured 100 different PIs. This new 6th edition has 46 chapters and includes expanded information on more than 350 types of PI. The Handbook includes an overview of The Immune System and Primary Immunodeficiency Diseases to provide a basic description of the components of the immune system and how its defects lead to disease. There are 24 chapters covering the specific details of many of the individual PIs themselves. There are additional chapters with general information relevant to the inheritance, laboratory diagnosis, general care and specific medical treatments of PI, as well as chapters on life management issues for individuals of different ages. Since the previous edition was released, there have been many important breakthroughs and discoveries regarding PI. All of the existing chapters have been revised and updated with new information and many have been completely rewritten. The authors and editors have tried to condense the often highly technical information available into a form that is informative yet still understandable to a reader not trained in medicine or immunology. We hope that you find the Handbook to be a useful source of information about primary immunodeficiency diseases and would appreciate your feedback so that we can continue to make improvements in future editions. In addition, all the information that is found in the IDF Patient & Family Handbook can be found on the IDF website (www.primaryimmune.org). It is important to recognize that a regular dialogue between the individual with PI, their family, and their healthcare provider team is essential to facilitate the highest quality care. This Handbook is not intended to be a substitute for those critical interactions, but it should be used as a tool for patients and their families. Our goal is to help them understand the information that they receive from their providers and arm them with background information so that they can better communicate with their healthcare team. Each situation is unique and the management of illness and its treatment must be customized to meet their individual needs. The development of a partnership between the individual and family and the healthcare provider is critically important for success in the management of life- long challenges like those presented by PI. The Editors