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Clin Immunol. 2019 Jan;198:19-30. doi: 10.1016/j.clim.2018.11.007. Epub 2018 Nov 13.

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

Author information

1
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
2
Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran.
3
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran; Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden.
4
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran. Electronic address: aghamohammadi@sina.tums.ac.ir.

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.

KEYWORDS:

Class switch recombination; DNA repair defects; Hyper-IgM syndrome; Primary immunodeficiency disorders; Somatic hyper mutation

PMID:
30439505
DOI:
10.1016/j.clim.2018.11.007
[Indexed for MEDLINE]

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