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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.
In certain conditions, the regulation rather than the intrinsic activity of parts of the immune system is the predominant problem. [7] Immunodeficiency with hypopigmentation or albinism: Chédiak–Higashi syndrome, Griscelli syndrome type 2; Familial hemophagocytic lymphohistiocytosis: perforin deficiency, UNC13D deficiency, syntaxin 11 deficiency
Humoral immune deficiency (including B cell deficiency or dysfunction), with signs or symptoms depending on the cause, but generally include signs of hypogammaglobulinemia (decrease of one or more types of antibodies) with presentations including repeated mild respiratory infections, and/or agammaglobulinemia (lack of all or most antibody production) which results in frequent severe infections ...
Secondary or acquired immune deficiencies are caused by something outside the body such as a virus or immune suppressing drugs. [6] Primary immune diseases are at risk to an increased susceptibility to, and often recurrent ear infections, pneumonia, bronchitis, sinusitis or skin infections. Immunodeficient patients may less frequently develop ...
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]
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.
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.
Patients diagnosed with isolated primary immunoglobulin M deficiency frequently exhibit recurrent infections with common microorganisms as well as a higher incidence of autoimmune and allergy disorders. More than 80% of patients with isolated primary immunoglobulin M deficiency have recurrent infections as their presenting symptom.