Definition
Hyper-IgM syndrome is a type of hypogammaglobulinemia, characterized by normal or increased serum IgM levels and depressed IgG and IgA levels. This is associated with a block in B-cell class switching from IgM to IgG. The syndrome has been described in male patients with a mutation in the CD40L gene located on the X chromosome. The syndrome may be inherited in X-linked or autosomal recessive pattern. Some patients may not have abnormal IgM levels, and identification of the abnormal CD40L leads to the diagnosis. Hyper-IgM syndrome is associated with lymphadenopathy, recurrent infections, neutropenia, autoimmune syndromes, and a susceptibility to infections. Patients are especially more likely to develop Pneumocystis carinii, histoplasmosis, toxoplasmosis, candida, cytomegalovirus, and mycobacterial infections. The syndrome is considered in the differential diagnosis of Pneumocystis carinii, pneumonia and cryptosporidium related gastrointestinal disease. Infections typically...
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Bonilla FA, Geha RS (2003) Primary immunodeficiency diseases. J Allergy Clin Immunol 111(2 Suppl):S571–81
Insel RA, Quaidoo EA (2000) Disorders of lymphocyte function. In: Hoffman R, et al (eds) (2000) Hematology: Basic Principles and Practice, 3rd ed. Churchill Livingstone, St. Louis, pp 775–6
Sorensen RU, Moore C (2000) Primary immune deficiencies: presentation, diagnosis, and mangement: Antibody deficiency syndromes Pediatr Clin North Am 47(6):1225–52
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© 2004 Springer-Verlag
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(2004). Hyper-IgM syndrome. In: Moreland, L.W. (eds) Rheumatology and Immunology Therapy. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-29662-X_1289
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DOI: https://doi.org/10.1007/3-540-29662-X_1289
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-20625-5
Online ISBN: 978-3-540-29662-1
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