{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:54:30Z","timestamp":1781081670090,"version":"3.54.1"},"reference-count":45,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2004,6,15]],"date-time":"2004-06-15T00:00:00Z","timestamp":1087257600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2004,6,15]]},"abstract":"<jats:title>SUMMARY<\/jats:title>\n               <jats:p>Eleven Norwegian patients (aged 2\u201333\u2003years, seven males and four females) with Ataxia-telangiectasia (A-T) and their parents were investigated. Five of the patients were homozygous for the same ATM mutation, 3245delATCinsTGAT, a Norwegian founder mutation. They had the lowest IgG2 levels; mean (95% confidence interval) 0\u00b723 (0\u00b705\u20130\u00b741) g\/l versus 0\u00b791 (0\u00b758\u20131\u00b726) g\/l in the other patients (P\u2003=\u20030\u00b7002). Among the 11 A-T patients, six had IgG2 deficiency, six had IgA deficiency (three in combination with IgG2 deficiency) and seven had low\/undetectable IgE values. All patients had very low levels of antibodies to Streptococcus pneumoniae 0\u00b79 (0\u00b74\u20131\u00b74) U\/ml, while normal levels were found in their parents 11\u00b71 (8\u00b77\u201313\u00b74) U\/ml (P\u2003&amp;lt;\u20030\u00b7001). A positive linear relationship between pneumococcal antibodies and IgG2 (r\u2003=\u20030\u00b785, P\u2003=\u20030\u00b7001) was found in the patients. Six of 11 had diphtheria antibodies and 7 of 11 tetanus antibodies after childhood vaccinations, while 4 of 7 Hemophilus influenzae type b (Hib) vaccinated patients had protective antibodies. Ten patients had low B cell (CD19+) counts, while six had low T cell (CD3+) counts. Of the T cell subpopulations, 11 had low CD4+ cell counts, six had reduced CD8+ cell counts, and four had an increased portion of double negative (CD3+\/CD4-\/CD8-) gamma delta T cells. Of the 22 parents (aged 23\u201364\u2003years) 12 were heterozygous for the ATM founder mutation. Abnormalities in immunoglobulin levels and\/or lymphocyte subpopulations were also observed in these carriers, with no correlation to a special ATM genotype.<\/jats:p>","DOI":"10.1111\/j.1365-2249.2004.02492.x","type":"journal-article","created":{"date-parts":[[2004,6,15]],"date-time":"2004-06-15T19:24:39Z","timestamp":1087327479000},"page":"179-186","source":"Crossref","is-referenced-by-count":30,"title":["The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents"],"prefix":"10.1093","volume":"137","author":[{"given":"A","family":"STRAY-PEDERSEN","sequence":"first","affiliation":[{"name":"Department of Paediatrics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"J\u00d3NSSON","sequence":"additional","affiliation":[{"name":"Institute of Immunology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"HEIBERG","sequence":"additional","affiliation":[{"name":"The Norwegian Institute of Public Health, Oslo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C R","family":"LINDMAN","sequence":"additional","affiliation":[{"name":"Paediatric Department, Kristiansund County Hospital, Kristiansund"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"WIDING","sequence":"additional","affiliation":[{"name":"Paediatric Department, Ulleval University Hospital, Oslo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I S","family":"AABERGE","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Rikshospitalet University Hospital, Oslo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A L","family":"BORRESEN-DALE","sequence":"additional","affiliation":[{"name":"Department of Genetics, The Norwegian Radium Hospital, Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T G","family":"ABRAHAMSEN","sequence":"additional","affiliation":[{"name":"Department of Paediatrics"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2004,6,15]]},"reference":[{"key":"2022011223190149100_b1","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1038\/336577a0","article-title":"Localization of an ataxia-telangiectasia gene to chromosome 11q22\u201323","volume":"336","author":"Gatti","year":"1988","journal-title":"Nature"},{"key":"2022011223190149100_b2","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1126\/science.7792600","article-title":"A single ataxia telangiectasia gene with a product similar to PI-3 kinase","volume":"268","author":"Savitsky","year":"1995","journal-title":"Science"},{"key":"2022011223190149100_b3","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1038\/nrc1011","article-title":"ATM and related 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