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Primary Immunodeficiency is also known as congenital immunodeficiencies. [11] Many of these disorders are hereditary and are autosomal recessive or X-linked. There are over 95 recognised primary immunodeficiency syndromes; they are generally grouped by the part of the immune system that is malfunctioning, such as lymphocytes or granulocytes. [12]
Primary immunodeficiencies are disorders in which part of the body's immune system is missing or does not function normally. [1] To be considered a primary immunodeficiency (PID), the immune deficiency must be inborn, not caused by secondary factors such as other disease, drug treatment, or environmental exposure to toxins.
Treatment for combined immunodeficiencies with defects in antibody production primarily consists of immunoglobulin replacement therapy. [1] Susceptibility to infections is an important feature of combined immunodeficiencies and influences patients' clinical evolution; as a result, antimicrobial prophylaxis is frequently used to prevent ...
Severe combined immunodeficiency (SCID) DiGeorge syndrome; Hyperimmunoglobulin E syndrome (also known as Job's Syndrome) Common variable immunodeficiency (CVID): B cell levels are normal in circulation but with decreased production of IgG throughout the years, so it is the only primary immune disorder that presents onset in the late teens years.
Common variable immunodeficiency (CVID) is an inborn immune disorder characterized by recurrent infections and low antibody levels, specifically in immunoglobulin (Ig) types IgG, IgM, and IgA. [2] Symptoms generally include high susceptibility to pathogens, chronic lung disease , as well as inflammation and infection of the gastrointestinal tract.
X-linked severe combined immunodeficiency (X-SCID) is an immunodeficiency disorder in which the body produces very few T cells and NK cells. In the absence of T cell help, B cells become defective. [1] It is an X-linked recessive inheritance trait, stemming from a mutated (abnormal) version of the IL2RG gene located on the X-chromosome.