In addition to IDF Publications, the following materials can help you learn more about primary immunodeficiency diseases. This list of materials is divided into the following sections:
Specific Disease Types
- Chronic Granulomatous Disease (CGD)
- Chronic Mucocutaneous Candidiasis (CMC), APECED
- Common Variable Immune Deficiency (CVID)
- Natural Killer Cell Deficiency (NK Cell Deficiency)
- Neoplasia, XMEN Disease
- Selective IgA Deficiency
- Severe Combined Immune Deficiency (SCID)
- X-Linked Agammaglobulinemia (XLA)
- Other Related Disorders
- The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies
- Primary Immunodeficiency Diseases: A Molecular and Genetic Approach, 3rd Edition.
Edited by Hans D. Ochs, MD; C.I. Edvard Smith, MD, PhD; Jennifer M. Puck, MD. 2014.
- Primary Immunodeficiencies: 2009 Update
International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies.
- Immunity and Nutrition Presentation from Dr. Victoria Dimitriades at the 2015 IDF National Conference
- Prevention of Infections During Primary Immunodeficiency, Clinical Infectious Diseases. September 28, 2014.
- Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts, Medical Advisory Committee of the Immune Deficiency Foundation. 2014.
- Chart - Specific Recommendations for Immunization of Children and Adolescents with Different Types of PI
- Overview of Immunizations from IDF Patient & Family Handbook
- IPOPI Informational Booklet “Vaccines and primary immunodeficiencies"
Specific Disease Types
- Genes Associated with CVID: One Diagnosis to Rule Them All? - Article in Journal of Medical Genetics, June 2016
- Loss of B Cells in Patients with Heterozygous Mutations in IKAROS
- Clinical picture and treatment of 2212 patients with common variable immunodeﬁciency
- How I Treat Common Variable Immune Deficiency
Charlotte Cunningham-Rundles, MD PhD & David S Gottesman, Professor of Immunology.
- IDF Living with CGD Website - The IDF Resource for the CGD Community
- A Step Closer to Personalized Medicine: Improving Gene Therapy to Treat a Devastating Genetic Disease
- Chronic Granulomatous Disease - A Large, Single-center US Experience
Immunology Report, October 2015
- A Comprehensive Approach to the Management of Children and Adults with Chronic Granulomatous Disease, The Journal of Allergy and Clinical Immunology: In Practice, November / December 2016
- APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility Factors
Frontiers in Immunology. 2013; 4: 331
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy from the pediatric perspective.
Journal of Endocrinological Investigation. 2013 Nov;36(10):903-12.
- A multidisciplinary approach to management of autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)
BMJ Case Report 2013.
- Natural killer cell deficiency
Jordan S. Orange, MD, PhD, The Journal of Allergy and Clinical Immunology, September 2013.
- IgA Deficiency and Risk of Cancer: A Population-based Matched Cohort Study Journal of Clinical Immunology. 2015.
- IgA Deficiency, Autoimmunity and Pregnancy: A Population-Based Matched Cohort Study Journal of Clinical Immunology. 2014.
- Association Between IgA Deficiency & Other Autoimmune Conditions: A Population-Based Matched Cohort Study Journal of Clinical Immunology. 2014.
- "Video on Gene Therapy for X-Linked SCID"
Produced by NIH and Published on YouTube August 15, 2016
- "SCID Q & A with Sung-Yun Pai, MD"
IDF ADVOCATE, Spring 2015
- "Proof Positive: Study Confirms the Need for Early Screening and Intervention for SCID"
IDF ADVOCATE, Winter 2015
- Newborn Screening for Severe Combined Immunodeficiency Progress and Challenges
The Journal of the American Medical Association, August 20, 2014
- Transplantation Outcomes for Severe Combined Immunodeficiency, 2000–2009
The New England Journal of Medicine, July 30, 2014
- Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey.
Clinical Immunology, Volume 138, Issue 1, January 2011
- Statewide Newborn Screening for Severe T-Cell Lymphopenia
John M. Routes; William J. Grossman; James Verbsky; Ronald H. Laessig; Gary L. Hoffman; Charles D. Brokopp; Mei W. Baker JAMA. 2009;302(22):2465-2470
- Autoimmunity and Inflammation in X-linked Agammaglobulinemia
Journal of Clinical Immunology, May 2014