Agammaglobulinemia refers to a small group of primary antibody deficiencies characterized by a severe reduction of all immunoglobulin classes due to the absence of peripheral B cells. There are at least 8 forms of agammaglobulinemia depending on which gene is defective. However, the common underlying pathological mechanism is a maturation failure of B lymphocyte precursors into differentiated B lymphocytes and, ultimately, plasma cells. Hence, immunoglobulins cannot be produced due to the lack of circulating mature B cells. X-linked agammaglobulinemia (XLA), caused by BTK mutations, explains most of the cases.
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