Primary immunodeficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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Primary immunodeficiencies are disorders in which part of the body’s immune system is missing or does not function properly. Immunodeficiency syndromes may be caused by disorders of the bone marrow (site of immunocyte production). However, many primary immunodeficiency syndromes are caused by mutations that result in abnormalities in either the maturation of immunocytes or their function and are thus not considered bone marrow disorders per se. 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.). In primary immunodeficiency, there might be either cellular involvement (T-cells), humoral involvement (B-cells), or both cellular and humoral involvement.

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

• 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

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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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”)

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