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dc.contributor.authorThorsteinsson, L
dc.contributor.authorOgmundsdóttir, H M
dc.contributor.authorSigfusson, A
dc.contributor.authorArnason, A
dc.contributor.authorEyjolfsson, G
dc.contributor.authorJensson, O
dc.date.accessioned2011-04-11T11:34:17Z
dc.date.available2011-04-11T11:34:17Z
dc.date.issued1990-09
dc.date.submitted2011-04-11
dc.identifier.citationScand. J. Immunol. 1990, 32(3):273-80en
dc.identifier.issn0300-9475
dc.identifier.pmid2402596
dc.identifier.doi10.1111/j.1365-3083.1990.tb02920.
dc.identifier.urihttp://hdl.handle.net/2336/127938
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractThis paper describes studies of genetic markers and immune functions in the first Icelandic family identified with X-linked agammaglobulinaemia (X-LA), including three affected brothers. The eldest brother was diagnosed at the age of 9 in 1963. He suffered repeated infections and died at the age of 23. The other two affected brothers, diagnosed at 6 years and 1 year of age, are alive and well on immunoglobulin replacement therapy at the ages of 32 and 24. All were typed for HLA, complement, and various other markers. Pedigree analysis suggests an X-linked segregation of the disease. Their serum IgG is maintained at normal levels on therapy. Several parameters of immune function were studied. The following results were obtained for the X-LA brothers: B cells are absent in their peripheral blood samples. T-cell numbers are normal, but monocytes are increased in numbers and activity. No immunoglobulin production could be elicited in vitro with PWM and no cells containing cytoplasmic Ig were detectable among PWM-stimulated blasts. Nevertheless the proliferative response was particularly vigorous, but the responding cells were shown to be exclusively T cells. No blast transformation could be achieved with EB virus. NK-cell activity was normal/high normal. Other cell-mediated immune functions were normal. In conclusion our data indicate that the differentiation of B cells is blocked in the two surviving X-LA brothers. They have survived for a longer time and in better health than is generally reported. Early diagnosis and adequate replacement treatment with Ig is clearly crucial. Vigorous non-specific immune mechanisms may help to compensate for the defective specific immunity.
dc.language.isoenen
dc.publisherWiley-Blackwellen
dc.relation.urlhttp://dx.doi.org/10.1111/j.1365-3083.1990.tb02920.en
dc.subject.meshAgammaglobulinemiaen
dc.subject.meshB-Lymphocytesen
dc.subject.meshChilden
dc.subject.meshGenetic Linkageen
dc.subject.meshGenetic Markersen
dc.subject.meshHumansen
dc.subject.meshIcelanden
dc.subject.meshImmune Systemen
dc.subject.meshImmunityen
dc.subject.meshImmunity, Cellularen
dc.subject.meshMaleen
dc.subject.meshPedigreeen
dc.subject.meshX Chromosomeen
dc.titleThe first Icelandic family with X-linked agammaglobulinaemia: studies of genetic markers and immune functionen
dc.typeArticleen
dc.contributor.departmentDepartment of Medical Genetics, National University Hospital, Reykjavik, Iceland.en
dc.identifier.journalScandinavian journal of immunologyen
html.description.abstractThis paper describes studies of genetic markers and immune functions in the first Icelandic family identified with X-linked agammaglobulinaemia (X-LA), including three affected brothers. The eldest brother was diagnosed at the age of 9 in 1963. He suffered repeated infections and died at the age of 23. The other two affected brothers, diagnosed at 6 years and 1 year of age, are alive and well on immunoglobulin replacement therapy at the ages of 32 and 24. All were typed for HLA, complement, and various other markers. Pedigree analysis suggests an X-linked segregation of the disease. Their serum IgG is maintained at normal levels on therapy. Several parameters of immune function were studied. The following results were obtained for the X-LA brothers: B cells are absent in their peripheral blood samples. T-cell numbers are normal, but monocytes are increased in numbers and activity. No immunoglobulin production could be elicited in vitro with PWM and no cells containing cytoplasmic Ig were detectable among PWM-stimulated blasts. Nevertheless the proliferative response was particularly vigorous, but the responding cells were shown to be exclusively T cells. No blast transformation could be achieved with EB virus. NK-cell activity was normal/high normal. Other cell-mediated immune functions were normal. In conclusion our data indicate that the differentiation of B cells is blocked in the two surviving X-LA brothers. They have survived for a longer time and in better health than is generally reported. Early diagnosis and adequate replacement treatment with Ig is clearly crucial. Vigorous non-specific immune mechanisms may help to compensate for the defective specific immunity.


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