Inborn errors of immunity

Medical condition

Inborn errors of immunity (IEI) are a heterogenous group of disorders in which a mutation in any one of various genes that regulate the immune system causes increases in the susceptibility of individuals to develop a dysfunction in their immune system. Depending on the gene involved, this dysfunction may induce the development of an: a) autoinflammatory disease by causing a malfunction in the innate immune system; b) autoimmune disease by causing a malfunction in the adaptive immune system; c) viral, bacterial, fungal, or mycobacterial infection by causing a malfunction in one of the various components of the immune system that combat these pathogens; d) allergic disease by causing a hypersensitive immune system that overreacts to otherwise harmless substances; e) lose of one or more types of circulating blood cells by causing a failure of the bone marrow to produce the circulating blood cell type(s); f) hematological cancers by causing a mutation in any one of various oncogenes ; g) non-hematological cancers as well as hematological cancers by causing a mutation in the ATM serine/threonine kinase gene ; and h) non-malignant lymphoproliferative disorders by causing the excessive proliferation of T-cell or B-cell lymphocytes in the lymph nodes, gastrointestinal tract, liver, skin, or more than one of these organs.

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