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Primary immunodeficiency. 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 ...
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 .
Unlike in other primary immunodeficiencies XLA patients are at no greater risk for developing autoimmune illnesses. Agammaglobulinemia (XLA) is similar to the primary immunodeficiency disorder Hypogammaglobulinemia , and their clinical conditions and treatment are almost identical. However, while XLA is a congenital disorder, with known genetic ...
Hypogammaglobulinemia is an immune system disorder in which not enough gamma globulins are produced in the blood (thus hypo- + gamma + globulin + -emia ). This results in a lower antibody count, which impairs the immune system, increasing risk of infection. Hypogammaglobulinemia may result from a variety of primary genetic immune system defects ...
DiGeorge syndrome (when associated with thymic defects) TBX1 deficiency. CHARGE syndrome ( CHD7 deficiency or SEMA3E deficiency) Winged helix / FOXN1 deficiency. Chromosome 10p13-p14 deletion. Immuno-osseous dysplasias ( abnormal development of the skeleton with immune problems): Cartilage–hair hypoplasia.
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.
Complement deficiency. Complement deficiency is an immunodeficiency of absent or suboptimal functioning of one of the complement system proteins. [4] Because of redundancies in the immune system, many complement disorders are never diagnosed. Some studies estimate that less than 10% are identified. [5]
T cell deficiency is a deficiency of T cells, caused by decreased function of individual T cells, it causes an immunodeficiency of cell-mediated immunity. [1] T cells normal function is to help with the human body's immunity, they are one of the two primary types of lymphocytes (the other being B cells ). [medical citation needed]
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