The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management

Publication date: Available online 13 November 2018

Source: Clinical Immunology

Author(s): Reza Yazdani, Saba Fekrvand, Sepideh Shahkarami, Gholamreza Azizi, Bobak Moazzami, Hassan Abolhassani, Asghar Aghamohammadi

Abstract

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.

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