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. 2002 Nov;130(2):319-24.
doi: 10.1046/j.1365-2249.2002.01971.x.

Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: an 8-year follow-up study in a single centre

H Gregorek  1 , K H Chrzanowska, J Michałkiewicz, M Syczewska, K Madaliński
Affiliations

Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: an 8-year follow-up study in a single centre

H Gregorek et al. Clin Exp Immunol. 2002 Nov.

Abstract

During an 8-year period of observation, defects of immune responses were characterized and monitored in 40 of 50 Polish children with Nijmegen breakage syndrome referred to the Children's Memorial Health Institute in Warsaw. The following parameters were determined at diagnosis: (1) concentrations of serum IgM, IgG, IgA; (2) concentrations of IgG subclasses; and (3) lymphocyte subpopulations. In addition, naturally acquired specific antibodies against Streptococcus pneumoniae were determined in 20 patients with a history of recurrent respiratory infections. During follow-up, total serum immunoglobulins and IgG subclasses were monitored systematically in 17 patients who did not receive immunomodulatory therapy. Moreover, anti-HBs antibody response was measured after vaccination of 20 children against HBV. We found that the immune deficiency in NBS is profound, highly variable, with a tendency to progress over time. Systematic monitoring of the humoral response, despite good clinical condition, is essential for early medical intervention.

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Figures

Fig. 1
Fig. 1
Frequency of particular serum immunoglobulin (a) and IgG subclass (b) deficiencies at the time of NBS diagnosis. (a) Total IgG; (b) IgG subclasses.
Fig. 2
Fig. 2
Example of progression of humoral immunity defects in a single NBS patient over the course of time. (a) Total immunoglobulins. ▪, IgM; •, IgG; p, IgA. (b) IgG subclasses. •, IgG1; p, IgG2; ▪, IgG3; —, IgG4. // Between months 15 and 28 after diagnosis the patient did not present for control investigations. S: substitution with intravenous immunoglobulins.
See this image and copyright information in PMC

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