TITLE

Cellular and Molecular Characterisation of the Hyper Immunoglobulin M Syndrome Associated with Congenital Rubella Infection

AUTHOR(S)
Rohan Ameratunga; See-Tarn Woon; Wikke Koopmans; John French
PUB. DATE
January 2009
SOURCE
Journal of Clinical Immunology;Jan2009, Vol. 29 Issue 1, p99
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Abstract Introduction  The hyper-immunoglobulin M syndrome (HIM) is a rare group of immune deficiency disorders characterised by normal or increased serum IgM with normal or reduced IgG, IgA and IgE. Materials and Methods  We have undertaken detailed cellular and molecular studies in a 53-year-old man with HIM as a result of congenital rubella. Results  No mutations were detected in the CD40 ligand, activation-induced cytidine deaminase and uracil DNA glycosylase. His T-cell responses to lectins and antigens were normal. Flow cytometry confirmed the presence of CD40 ligand on activated T cells. Most CD40-dependent functions that were tested, including B-cell proliferation, isotype switching and production of memory B cells, were normal. CD40/IL4 dependent rescue from anti-IgM-induced apoptosis was impaired. Conclusion  The detection of cell-surface IgG but lack of serum IgG indicated that he may have an antibody secretion defect.
ACCESSION #
36359101

 

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