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

Abstract

The detection of cell-surface IgG but lack of serum IgG indicated that he may have an antibody secretion defect.

Identification of Germinal Centres in the Lymph Node of a Patient with Hyperimmunoglobulin M Syndrome Associated with Congenital Rubella

“…As predicted by our previous studies, we have confirmed the presence of germinal centres and isotype switched B lymphocytes in rHIM [12].…”

“…High-resolution CT scans of the thorax have not shown bronchiectasis. As previously noted, he has normal CD40 ligand expression (11.5 % CD3+ CD40L+cells on PMA/Calcium ionophore activation) [12] and normal sequence compared with a patient with XHIM [12,14,15]. He has wild type sequence for the UNG, CD40 and AICDA genes [12].…”

“…As previously noted, he has normal CD40 ligand expression (11.5 % CD3+ CD40L+cells on PMA/Calcium ionophore activation) [12] and normal sequence compared with a patient with XHIM [12,14,15]. He has wild type sequence for the UNG, CD40 and AICDA genes [12]. His lymphocytes were able to produce IgG4 in vitro without the need for exogenous CD40 ligand [12].…”

“…In contrast, his IgM levels have been as high as 16 g/l (0.4-2.5) but generally have remained at approximately 4-6 g/l. He was initially treated with intramuscular immunoglobulin but subsequently placed on high dose IVIG and then subcutaneous immunoglobulin [12].…”

“…Patients with rHIM may not be easily recognized. Review of the literature suggests (i) this is an extremely rare syndrome even prior to widespread vaccination of susceptible women [11], (ii) rHIM patients may have milder immune defects than those with XHIM [12], and (iii) their condition may improve over time [13,14].…”