Primary immunodeficiency
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview
Primary immunodeficiencies are disorders in which part of the body's immune system is missing or does not function properly. To be considered a primary immunodeficiency, the cause of the immune deficiency must not be secondary in nature (i.e., caused by other disease, drug treatment, or environmental exposure to toxins, e.g.)
Examples
- X-linked agammaglobulinemia (Bruton type agammaglobulinemia)
- Common variable immunodeficiency (also called CVID or Hypogammaglobulinemia)
- Selective immunoglobulin A deficiency
- Severe combined immunodeficiency (SCID)
- IgG Sub-class deficiency
- Chronic granulomatous disease
- Wiskott-Aldrich syndrome
- hyper-IgM syndromes
- DiGeorge syndrome
- Ataxia telangiectasia
- Complement Deficiencies
- Myeloperoxidase deficiency
- Leukocyte adhesion deficiency
- Chédiak-Higashi syndrome
- Vici syndrome
Incidence
It is believed that around one in every 1200 Americans has a Primary Immunodeficiency disorder. Conditions - there are over 130 recognised primary immunodeficiencies - common variable immunodeficiency, IgA deficiency, XLA, XLP all being worthy of mention in addition to those listed.
Patient support - there are a growing number of national patient organisations around the world to support those who are diagnosed or where one of the conditions are recorded in a family. Access via www.ipopi.org or e-mail info@ipopi.org [or] The Immune Deficiency Foundation [or] Jeffrey Modell Foundation (Links found under "External Links Section")
Treatment
Primary immunodeficiency is generally treated by immunotherapy either through intravenous infusions of immunoglobulin (IVIG) in an effort to induce passive immunity (Immunotherapy is not indicated for those who are IgA deficient). A new subcutaneous treatment (SC-Ig) was recently approved by the FDA, which is especially recommended in cases of severe adverse effects to the IV-Ig treatment or with individuals with poor venous access. Persons with immunodeficiencies are very vulnerable to opportunistic infections, and the use of antimicrobial agents, such as antibiotics and antifungals, is often required. One of the future prospects in the treatment primary immunodeficiency is gene therapy. However, this form of treatment is in its infancy, and the feasibility and long-term complications of gene therapy are not known.
Along with physical treatment, there are hotlines and patient groups; this enables support for family members as well as the actual patient. One can find a diversity of supports by clicking the link to the 'Immune Deficiency Foundation' or 'Jeffrey Modell Foundation under Wikipedia's section External Links on this page.
External links
Immune Deficiency Foundation [3]
Primary Immunodeficiency Resource Center Presented by the Jeffrey Modell Foundation Jeffrey Modell Foundation
International Patient Organisation for Primary Immunodeficiencies (IPOPI) [4]
Population Prevalence of Diagnosed Primary Immunodeficiency Diseases in the United States [5]