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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 ...
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.
Genetic testing involves collecting samples from patients for molecular analysis when there is a suspicion of inborn errors in immunity. Most Primary Immunodeficiency Disorders (PIDs) are inherited as single-gene defects. [20] The key genes associated with immunodeficiency diseases include CD40L, CD40, RAG1, RAG2, IL2RG, and ADA.
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. Chronic granulomatous disease (CGD): a deficiency in NADPH oxidase enzyme, which causes failure to generate oxygen ...
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 ...
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 ...
Humoral immune deficiencies are conditions which cause impairment of humoral immunity, which can lead to immunodeficiency. It can be mediated by insufficient number or function of B cells, the plasma cells they differentiate into, or the antibody secreted by the plasma cells. [7] The most common such immunodeficiency is inherited selective IgA ...
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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