DO ELEVATED SERUM IgM LEVELS HAVE TO BE INCLUDED IN PROBABLE DIAGNOSIS CRITERIA OF PATIENTS WITH ATAXIA-TELANGIECTASIA?

dc.contributor.authorAzarsiz, E.
dc.contributor.authorKaraca, N. E.
dc.contributor.authorGunaydin, N. C.
dc.contributor.authorGulez, N.
dc.contributor.authorOzturk, C.
dc.contributor.authorAksu, G.
dc.contributor.authorGenel, F.
dc.contributor.authorKutukculer, N.
dc.date.accessioned2019-10-27T22:14:02Z
dc.date.available2019-10-27T22:14:02Z
dc.date.issued2014
dc.departmentEge Üniversitesien_US
dc.description.abstractAtaxia-telangiectasia (AT) is a rare multisystem, neurodegenerative genetic disorder that is characterised by progressive neurological abnormalities, oculocutaneous telangiectasias and immunodeficiency. Delay in diagnosis or misdiagnosis is probable due to its wide clinical heterogeneity in infancy. Recurrent sinopulmonary infections are often the only presenting symptom and usually patients have decreased immunoglobulins. A total 10% of patients who present with decreased serum immunoglobulin G and A and with normal or elevated immunoglobulin M levels are often misdiagnosed as hyperimmunoglobulin M syndrome. Definitive diagnosis is made if a patient with progressive cerebellar ataxia has a disease causing mutation on the ATM gene. Ataxia-telangiectasia guideline of the European Society for Immunodeficiencies defines the probable diagnosis criteria. We evaluated twenty ataxia-telangiectasia patients (mean age 13.8 +/- 4.1 years) retrospectively who were followed-up for a mean of 38.6 +/- 27.0 months. Twelve patients had a family history of consanguinity. A total of 80% patients suffered from various infections. Neoplasms occurred in three of them. Patients showed immunological abnormalities as low IgG (45%), low IgA (65%) and elevated IgM (60%) levels. CD3(+)CD4(+) T lymphocyte frequency was low in 45% patients. The mean AFP concentration at the diagnosis was 191.9 +/- 140.1 ng/mL and the raised IgM values did not show any statistically significant relationship with high AFP concentrations. Frequency of the elevated IgM concentrations in (60%) patients raises the concerns about thinking this finding has to be accepted as a probable diagnosis criterium.en_US
dc.identifier.doi10.1177/039463201402700312en_US
dc.identifier.endpage427en_US
dc.identifier.issn0394-6320
dc.identifier.issn2058-7384
dc.identifier.issue3en_US
dc.identifier.pmid25280033en_US
dc.identifier.startpage421en_US
dc.identifier.urihttps://doi.org/10.1177/039463201402700312
dc.identifier.urihttps://hdl.handle.net/11454/49926
dc.identifier.volume27en_US
dc.identifier.wosWOS:000342397100012en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSage Publications Incen_US
dc.relation.ispartofInternational Journal of Immunopathology and Pharmacologyen_US
dc.relation.publicationcategoryDiğeren_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectataxia-telangiectasiaen_US
dc.subjectserum IgMen_US
dc.titleDO ELEVATED SERUM IgM LEVELS HAVE TO BE INCLUDED IN PROBABLE DIAGNOSIS CRITERIA OF PATIENTS WITH ATAXIA-TELANGIECTASIA?en_US
dc.typeLetteren_US

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