2.50
Hdl Handle:
http://hdl.handle.net/2336/73638
Title:
Ataxia-telangiectasia patients presenting with hyper-IgM syndrome
Authors:
Noordzij, J G; Wulffraat, N M; Haraldsson, A; Meyts, I; van't Veer, L J; Hogervorst, F B L; Warris, A; Weemaes, C M R
Citation:
Arch. Dis. Child. 2009, 94(6):448-9
Issue Date:
1-Jun-2009
Abstract:
Ataxia-telangiectasia (A-T) is characterised by progressive neurological abnormalities, oculocutaneous telangiectasias and immunodeficiency (decreased serum IgG subclass and/or IgA levels and lymphopenia). However, 10% of A-T patients present with decreased serum IgG and IgA with normal or raised IgM levels. As cerebellar ataxia and oculocutaneous telangiectasias are not present at very young age, these patients are often erroneously diagnosed as hyper IgM syndrome (HIGM). Eight patients with A-T, showing serum Ig levels suggestive of HIGM on first presentation, are described. All had decreased numbers of T lymphocytes, unusual in HIGM. The diagnosis A-T was confirmed by raised alpha-fetoprotein levels in all patients. To prevent mistaking A-T patients for HIGM it is proposed to add DNA repair disorders as a possible cause of HIGM.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://dx.doi.org/10.1136/adc.2008.149351

Full metadata record

DC FieldValue Language
dc.contributor.authorNoordzij, J G-
dc.contributor.authorWulffraat, N M-
dc.contributor.authorHaraldsson, A-
dc.contributor.authorMeyts, I-
dc.contributor.authorvan't Veer, L J-
dc.contributor.authorHogervorst, F B L-
dc.contributor.authorWarris, A-
dc.contributor.authorWeemaes, C M R-
dc.date.accessioned2009-07-14T10:54:50Z-
dc.date.available2009-07-14T10:54:50Z-
dc.date.issued2009-06-01-
dc.date.submitted2009-07-14-
dc.identifier.citationArch. Dis. Child. 2009, 94(6):448-9en
dc.identifier.issn0003-9888-
dc.identifier.pmid19224889-
dc.identifier.doi10.1136/adc.2008.149351-
dc.identifier.urihttp://hdl.handle.net/2336/73638-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractAtaxia-telangiectasia (A-T) is characterised by progressive neurological abnormalities, oculocutaneous telangiectasias and immunodeficiency (decreased serum IgG subclass and/or IgA levels and lymphopenia). However, 10% of A-T patients present with decreased serum IgG and IgA with normal or raised IgM levels. As cerebellar ataxia and oculocutaneous telangiectasias are not present at very young age, these patients are often erroneously diagnosed as hyper IgM syndrome (HIGM). Eight patients with A-T, showing serum Ig levels suggestive of HIGM on first presentation, are described. All had decreased numbers of T lymphocytes, unusual in HIGM. The diagnosis A-T was confirmed by raised alpha-fetoprotein levels in all patients. To prevent mistaking A-T patients for HIGM it is proposed to add DNA repair disorders as a possible cause of HIGM.en
dc.language.isoenen
dc.publisherBritish Medical Associationen
dc.relation.urlhttp://dx.doi.org/10.1136/adc.2008.149351en
dc.subject.meshAtaxia Telangiectasiaen
dc.subject.meshChilden
dc.subject.meshChild, Preschoolen
dc.subject.meshDNA Repairen
dc.subject.meshFemaleen
dc.subject.meshHumansen
dc.subject.meshHyper-IgM Immunodeficiency Syndromeen
dc.subject.meshImmunoglobulin Gen
dc.subject.meshInfanten
dc.subject.meshLymphocyte Counten
dc.subject.meshMaleen
dc.subject.meshT-Lymphocytesen
dc.titleAtaxia-telangiectasia patients presenting with hyper-IgM syndromeen
dc.typeArticleen
dc.identifier.eissn1468-2044-
dc.contributor.departmentDepartment of Paediatrics, Reinier de Graaf Gasthuis, Delft, The Netherlands. j.noordzij@rdgg.nlen
dc.identifier.journalArchives of disease in childhooden

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