Fast Facts - Primary Immunodeficiencies

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1 Fast Facts - Primary Immunodeficiencies 1. Primary immunodeficiencies are a group of more than 150 potentially serious disorders that can lead to recurrent infections or swellings. If the infections or swellings are severe these disorders can be life threatening. 2. Primary immunodeficiencies are caused by defects in the genes that control the immune system, and are therefore usually inherited. They are not related to AIDS (acquired immunodeficiency syndrome) which is due to infection with human immunodeficiency virus (HIV). 3. Whilst many primary immunodeficiencies appear in childhood, some emerge for the first time in adulthood. Research has led to improved therapies that can lead to a better and longer life. However, misdiagnosis or delayed diagnosis in children or adults can result in delayed treatment and complications that may be life threatening. 4. Primary immunodeficiencies can be grouped according to what part of the immune system is affected: Antibody deficiencies – such as Common Variable Immunodeficiency (CVID) Combined immune deficiencies – such as X-linked Severe Combined Immunodeficiency (SCID) Complement deficiencies – such as C2 Deficiency and Hereditary Angioedema (HAE) Phagocytic cell deficiencies – such as Chronic Granulomatous Disease (CGD) 5. One of the most effective and most commonly used treatments for some primary immunodeficiency diseases is immunoglobulin replacement therapy (IRT) to replace antibody levels. IRT is either injected into the veins using intravenous immunoglobulin (IVIG) about once a month, or administered at home by injections under the skin using subcutaneous immunoglobulin (SCIG). 6. Other treatment options for primary immunodeficiency diseases include antibiotics, haematopoeitic stem cell transplants (HSCT), immunomodulation, Icatibant and C1 Inhibitor concentrate. For more information visit www.allergy.org.au/immunodeficiency AusPIPS www.auspips.org.au, HAE Australasia www.haeaustralasia.org.au, IDFA www.idfa.org.au and IDFNZ www.idfnz.org.nz are patient support organisations that offer updates and advice for people with primary immunodeficiencies. © ASCIA 2018 ASCIA is the peak professional body of clinical immunology/allergy specialists in Australia and New Zealand Website: www.allergy.org.au Email: [email protected] Postal address: PO Box 450 Balgowlah NSW 2093 Australia Disclaimer: This document has been developed and peer reviewed by ASCIA members and is based on expert opinion and the available published literature at the time of review. Information contained in this document is not intended to replace medical advice and any questions regarding a medical diagnosis or treatment should be directed to a medical practitioner. Development of this document is not funded by any commercial sources and is not influenced by commercial organisations. .

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IDF Patient & Family Handbook
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. FIFTH EDITION COPYRIGHT 1987, 1993, 2001, 2007, 2013 IMMUNE DEFICIENCY FOUNDATION Copyright 2013 by Immune Deficiency Foundation, USA. REPRINT 2015 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 Immunodeficency Diseases 5th Edition This publication has been made possible through a generous grant from Baxalta Incorporated Immune Deficiency Foundation 110 West Road, Suite 300 Towson, MD 21204 800-296-4433 www.primaryimmune.org [email protected] EDITORS R. Michael Blaese, MD, Executive Editor Francisco A. Bonilla, MD, PhD Immune Deficiency Foundation Boston Children’s Hospital Towson, MD Boston, MA E. Richard Stiehm, MD M. Elizabeth Younger, CPNP, PhD University of California Los Angeles Johns Hopkins Los Angeles, CA Baltimore, MD CONTRIBUTORS Mark Ballow, MD Joseph Bellanti, MD R. Michael Blaese, MD William Blouin, MSN, ARNP, CPNP State University of New York Georgetown University Hospital Immune Deficiency Foundation Miami Children’s Hospital Buffalo, NY Washington, DC Towson, MD Miami, FL Francisco A.
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Chapter 2 Agammaglobulinemia: X-Linked and Autosomal Recessive
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Practice Parameter for the Diagnosis and Management of Primary Immunodeficiency
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Primary Immunodeficiency Disorders
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Clinical: Primary Immunodeficiency the IMMUNE SYSTEM
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Primary Immunodeficiencies MEGAN A
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Infections That Suggest an Immunodeficiency
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Diseases of the Immune System 813
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Ataxia- Telangiectasia
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Primary Immunodeficiencies (PID)
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