Hyper Immunoglobulin M syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by low or absent levels of serum IgG, IgA, IgE and normal or increased levels of serum IgM. Various X-linked and autosomal recessive/dominant mutations have been reported as the underlying cause of the disease. Based on the underlying genetic defect, the affected patients present a variety of clinical manifestations including pulmonary and gastrointestinal complications, autoimmune disorders, hematologic abnormalities, lymphoproliferation and malignancies which could be controlled by multiple relevant therapeutic approaches. Herein, the epidemiology, pathogenesis, clinical manifestations, diagnosis, management, prognosis and treatment in patients with HIGM syndrome have been reviewed.

高免疫球蛋白M综合征（HIGM）是一种罕见的原发性免疫缺陷疾病，其特征是血清IgG，IgA，IgE水平低或不存在，血清IgM水平正常或升高。据报道，各种X连锁和常染色体隐性/显性突变是疾病的根本原因。基于潜在的遗传缺陷，受影响的患者表现出多种临床表现，包括肺部和胃肠道并发症，自身免疫性疾病，血液学异常，淋巴增生和恶性肿瘤，这些疾病可通过多种相关治疗方法加以控制。本文对HIGM综合征患者的流行病学，发病机制，临床表现，诊断，治疗，预后和治疗进行了综述。