ABSTRACT
The hyper immunoglobulin M syndrome(hyper-IgM syndrome, HIGM)is a rare X-linked inherited primary immunodeficiency disease(PID)characterized by defective class switch recombination(CSR)with or without somatic hyper mutation(SHM), resulting in normal or increased levels of serum IgM associated with deficiency of immunoglobulin G(IgG), immunoglobulin A(IgA), and immunoglobulin E(IgE)and antibody dysfunction.Most cases have X-linked recessive inheritance, and a few are autosomal-recessive forms.The clinical manifestations include recurrent infections in early age, tumors and autoimmune diseases.The prognosis is poor, especially for HIGM with X-linked recessive inheritance.And if these patients do not be treated timely after birth, most of them will die early.In order to improve pediatricians′ understanding of the disease, and to timely identify and treat HIGM for an improved prognosis, this paper reviews the pathogenesis, clinical manifestations, diagnosis and treatment of HIGM.