高IgM综合征是一种较罕见的原发性免疫缺陷病,主要表现为反复感染,血清IgG、IgA和IgE明显降低,IgM水平正常或升高,B淋巴细胞数正常。近年来,随着分子生物学的发展,发现了越来越多的高IgM综合征类型,在其诊断和治疗方面也取得了新的进展。 High IgM syndrome is a rare primary immunodeficiency disease, mainly manifested as recurrent infections, serum IgG, IgA and IgE was significantly lower, IgM levels were normal or elevated, B lymphocytes normal. In recent years, with the development of molecular biology, more and more types of high IgM syndromes have been found, and new progress has also been made in diagnosis and treatment.