1. Extensive deletion of immunoglobulin heavy chain constant region genes in the absence of recurrent infections: when is IgG subclass deficiency clinically relevant?
- Author
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M. Leibovitz, Marzia Duse, Andrea Bottaro, A.O. Carbonara, C. Boccazzi, Alberto Albertini, Antonella Meini, U. Cariota, Alessandro Plebani, R. Brusco, L. Ruggeri, Alberto G. Ugazio, and A. Negrini
- Subjects
Male ,blood/genetics/immunology ,IgG subclass deficiency ,Immunoglobulin E ,Subclass ,immunology ,Gene duplication ,IGHC ,Immunology and Allergy ,immunoglobulin heavy chain constant region ,IgG deficiency ,genetics ,Child ,Southern ,genetics/physiology ,Respiratory Tract Infections ,In Situ Hybridization ,Gel ,blood/genetics ,Immunity, Cellular ,biology ,Genes, Immunoglobulin ,Blotting ,Toxoid ,IgA Deficiency ,Isotype ,Electrophoresis, Gel, Pulsed-Field ,Pedigree ,Blotting, Southern ,classification ,Female ,Antibody ,Immunoglobulin Constant Regions ,Immunoglobulin Heavy Chains ,Electrophoresis ,Adolescent ,Pathology and Forensic Medicine ,Pulsed-Field ,Antigen ,Immunoglobulin ,Humans ,immunoglobulin gene deletion ,Chromosome Aberrations ,Immunity ,Virology ,Antibody Formation ,Gene Deletion ,Genes ,IgG Deficiency ,Cellular ,Immunoglobulin G ,Immunology ,biology.protein ,Immunoglobulin heavy chain - 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.
- Published
- 1993