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Immunoglobulin levels in patients with carbohydrate-deficient glycoprotein syndrome type I. 1997

J E Björklund, and H Stibler, and B Kristiansson, and S G Johansson, and C G Magnusson
Department of Laboratory Medicine, Karolinska Institute, Stockholm, Sweden.

BACKGROUND The characteristic feature of carbohydrate-deficient glycoprotein syndrome (CDGS) type I, a multisystemic disease, is underglycosylation of many serum glycoproteins, such as transferrin. A few cases of severe infections during childhood have been reported and an underlying immunodeficiency has been suggested. Because of this and the fact that all immunoglobulin (Ig) isotypes are glycoproteins we analysed the Ig levels in patients with CDGS I. METHODS The serum concentrations of IgG1, IgG2, IgG3, IgG4, IgA, IgM, IgD and IgE, and the frequency of the G2m(23) allotype were measured by enzyme immunoassay in 15 patients with CDGS type I. RESULTS Ten (67%) patients had an elevated level of at least one Ig, when compared to age-related reference ranges. No particular isotype was involved although a tendency towards high IgE levels was registered. The frequency of homozygous G2m(23)-negative CDGS patients (33%) was not different from that of blood donors (34%). CONCLUSIONS We conclude that CDGS I patients have no major changes in the serum levels of any specific Ig isotype. The severe infections observed in some CDGS patients are therefore unlikely to involve any Ig deficiency. Our results do not exclude that Ig of patients with CDGS may have altered physiological functions because of abnormal glycosylation.

UI MeSH Term Description Entries
D007126 Immunoglobulin Allotypes Allelic variants of the immunoglobulin light chains (IMMUNOGLOBULIN LIGHT CHAINS) or heavy chains (IMMUNOGLOBULIN HEAVY CHAINS) encoded by ALLELES of IMMUNOGLOBULIN GENES. Allotypes, Immunoglobulin,Allotypic Antibodies,Antibodies, Allotypic,Ig Allotypes,Allotype, Ig,Allotype, Immunoglobulin,Allotypes, Ig,Allotypic Antibody,Antibody, Allotypic,Ig Allotype,Immunoglobulin Allotype
D007132 Immunoglobulin Isotypes The classes of immunoglobulins found in any species of animal. In man there are nine classes that migrate in five different groups in electrophoresis; they each consist of two light and two heavy protein chains, and each group has distinguishing structural and functional properties. Antibody Class,Ig Isotype,Ig Isotypes,Immunoglobulin Class,Immunoglobulin Isotype,Antibody Classes,Immunoglobulin Classes,Class, Antibody,Class, Immunoglobulin,Classes, Antibody,Classes, Immunoglobulin,Isotype, Ig,Isotype, Immunoglobulin,Isotypes, Ig,Isotypes, Immunoglobulin
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D012016 Reference Values The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality. Normal Range,Normal Values,Reference Ranges,Normal Ranges,Normal Value,Range, Normal,Range, Reference,Ranges, Normal,Ranges, Reference,Reference Range,Reference Value,Value, Normal,Value, Reference,Values, Normal,Values, Reference
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005260 Female Females
D006023 Glycoproteins Conjugated protein-carbohydrate compounds including MUCINS; mucoid, and AMYLOID glycoproteins. C-Glycosylated Proteins,Glycosylated Protein,Glycosylated Proteins,N-Glycosylated Proteins,O-Glycosylated Proteins,Glycoprotein,Neoglycoproteins,Protein, Glycosylated,Proteins, C-Glycosylated,Proteins, Glycosylated,Proteins, N-Glycosylated,Proteins, O-Glycosylated

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