X-linked immunodeficiency with hyper-immunoglobulin M / 中华实用儿科临床杂志

X-linked immunodeficiency with hyper-immunoglobulin(Ig) M is a primary immunodeficiency disease,mainly due to the mutation of coding CD40 ligand(CD40L),which results in the dysfunction of immunoglobulin class switching that causes in a normal or increased IgM level,and a marked decrease in IgG,IgA and IgE level.The clinical manifestations are recurrent infection,neutropenia,and autoimmune disease or tumor.