Extensive deletion of immunoglobulin heavy chain constant region genes in the absence of recurrent infections: When is IgG subclass deficiency clinically relevant?

A. Plebani, A. G. Ugazio, A. Meini, L. Ruggeri, A. Negrini, A. Albertini, M. Leibovitz, M. Duse, A. Bottaro, R. Brusco, U. Cariota, C. Boccazzi, A. O. Carbonara

Research output: Contribution to journalArticle

21 Scopus citations

Abstract

This report describes two children with undetectable serum levels of IgA1, IgG2, IgG4, and IgE due to a homozygous deletion encompassing the A1-E genes. The father is a heterozygous carrier of the same deletion and the mother a heterozygous compound carrying the deletion on one chromosome and duplication on the other. In both children, serum IgG, IgG1, and IgG3 were higher than in normal children and IgG antibody response to tetanus toxoid and polysaccharide antigens was normal with increased IgG1 and IgG3 response compared to controls. The latter can be interpreted as a compensatory mechanism for the subclass deficit and may explain the lack of significant infections in both children. The importance of distinguishing IgG subclass deficiency due to gene deletion from that due to immunoregulatory dysfunction is discussed.

Original languageEnglish (US)
Pages (from-to)46-50
Number of pages5
JournalClinical Immunology and Immunopathology
Volume68
Issue number1
DOIs
StatePublished - Jun 1993

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Pathology and Forensic Medicine
  • Immunology

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    Plebani, A., Ugazio, A. G., Meini, A., Ruggeri, L., Negrini, A., Albertini, A., Leibovitz, M., Duse, M., Bottaro, A., Brusco, R., Cariota, U., Boccazzi, C., & Carbonara, A. O. (1993). Extensive deletion of immunoglobulin heavy chain constant region genes in the absence of recurrent infections: When is IgG subclass deficiency clinically relevant? Clinical Immunology and Immunopathology, 68(1), 46-50. https://doi.org/10.1006/clin.1993.1093