Defects in IGHM are the cause of agammaglobulinemia type 1 (AGM1) [MIM:601495]. It is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
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Defects in IGHM are the cause of agammaglobulinemia type 1 (AGM1) [MIM:601495]. It is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
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