List of primary immunodeficiencies

Primary immunodeficiencies are a group of disorders arising from defects in the immune system that lead to increased susceptibility to infections, autoimmune diseases, and malignancies. These conditions are caused by genetic abnormalities that affect the components of the immune system, including T cells, B cells, phagocytes, and complement components.

Overview

Primary immunodeficiencies are characterized by recurrent, often severe, infections that are typically resistant to standard treatments. Patients may also experience autoimmune phenomena, where the immune system attacks the body's own tissues, and an increased risk of developing certain types of cancer. The diagnosis of primary immunodeficiencies is based on clinical presentation, family history, and specialized immunologic tests.

Classification

Primary immunodeficiencies can be classified based on the part of the immune system that is affected:

B Cell (Antibody) Deficiencies

• X-linked Agammaglobulinemia (XLA)
• Common Variable Immunodeficiency (CVID)
• Selective IgA Deficiency
• Hyper IgM Syndromes

T Cell Deficiencies

• DiGeorge Syndrome
• Chronic Mucocutaneous Candidiasis

Combined B and T Cell Deficiencies

• Severe Combined Immunodeficiency (SCID)
• Wiskott-Aldrich Syndrome
• Ataxia Telangiectasia

Phagocyte Deficiencies

• Chronic Granulomatous Disease
• Leukocyte Adhesion Deficiency (LAD)

Complement Deficiencies

• Hereditary Angioedema
• C3 Deficiency

Diagnosis

The diagnosis of primary immunodeficiencies involves a combination of clinical evaluation, family history, and a series of laboratory tests. These tests can include blood tests to measure levels of immunoglobulins and complement components, flow cytometry to analyze lymphocyte populations, and genetic testing to identify specific mutations.

Treatment

Treatment of primary immunodeficiencies depends on the specific disorder and may include:

• Immunoglobulin Therapy: Replacement therapy for antibody deficiencies.
• Hematopoietic Stem Cell Transplantation: A potential cure for some severe combined immunodeficiencies.
• Gene Therapy: An emerging treatment for certain genetic immunodeficiencies.
• Antibiotics and Antifungals: To prevent and treat infections.
• Vaccinations: Modified vaccination schedules may be necessary to prevent infections.

Prognosis

The prognosis for individuals with primary immunodeficiencies varies widely depending on the specific disorder, its severity, and the effectiveness of treatment. Early diagnosis and appropriate treatment can significantly improve quality of life and life expectancy.

This list is incomplete; you can help WikiMD by expanding it.