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In these disorders both T lymphocytes and often B lymphocytes, regulators of adaptive immunity, are dysfunctional or decreased in number. The main members are various types of severe combined immunodeficiency (SCID). [7] T-/B+ SCID (T cells predominantly absent): γc deficiency; JAK3 deficiency; Interleukin-7 receptor-α deficiency; CD45 deficiency
Milder forms of primary immunodeficiency, such as selective immunoglobulin A deficiency, are fairly common, with random groups of people (such as otherwise healthy blood donors) having a rate of 1:600. Other disorders are distinctly more uncommon, with incidences between 1:100,000 and 1:2,000,000 being reported. [5]
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]
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 ...
PI3kinase. The pathophysiology of activated PI3K delta syndrome has several aspects. [2] The normal function has P110δ (PI3K) involved in immune system regulation. [9]P110δ effect is not limited to the immune system; P110δ has a presence in transformed epithelial cells and cell adhesion molecules (airway inflammation), and research has been done on the possibility of P110δ in the nervous ...
Hypogammaglobulinemia can be caused by either a primary or secondary immunodeficiency. Primary immunodeficiencies are caused by a mutation or series of mutations to the genome. [medical citation needed] For example, a study from 2012 found that a compound heterozygous deleterious mutation in the CD21 gene is associated with hypogammaglobulinemia.
This article provides a list of autoimmune diseases. These conditions, where the body's immune system mistakenly attacks its own cells, affect a range of organs and systems within the body. Each disorder is listed with the primary organ or body part that it affects and the associated autoantibodies that are typically found in people diagnosed ...
Selective immunoglobulin A deficiency, Selective IgE deficiency disease, IgG deficiency, and Isolated primary immunoglobulin M deficiency. Dysgammaglobulinemia is a type of immune disorder characterized by a reduction in some types of gamma globulins , resulting in heightened susceptibility to some infectious diseases where primary immunity is ...