Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency

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dc.contributor.authorTurul, Tuba
dc.contributor.authorTezcan, İlhan
dc.contributor.authorArtaç, Hasibe
dc.contributor.authorde Bruin-Versteeg, Sandra
dc.contributor.authorBarendregt, Barbara H.
dc.contributor.authorReisli, İsmail
dc.contributor.authorSanal, Özden
dc.date.accessioned2020-03-26T17:38:03Z
dc.date.available2020-03-26T17:38:03Z
dc.date.issued2009
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractOne of the severe combined immunodeficiencies (SCIDs), which is caused by a genetic defect in the signal transduction pathways involved in T-cell activation, is the ZAP70 deficiency. Mutations in ZAP70 lead to both abnormal thymic development and defective T-cell receptor (TCR) signaling of peripheral T-cells. In contrast to the lymphopenia in most SCID patients, ZAP70-deficient patients have lymphocytosis, despite the selective absence of CD8(+)T-cells. The clinical presentation is usually before 2 years of age with typical findings of SCID. Here, we present three new ZAP70-deficient patients who vary in their clinical presentation. One of the ZAP70- deficient patients presented as a classical SCID, the second patient presented as a healthy looking wheezy infant, whereas the third patient came to clinical attention for the eczematous skin lesions simulating atopic dermatitis with eosinophilia and elevated immunoglobulin E (IgE), similar to the Omenn syndrome. This study illustrates that awareness of the clinical heterogeneity of ZAP70 deficiency is of utmost importance for making a fast and accurate diagnosis, which will contribute to the improvement of the adequate treatment of this severe immunodeficiency.en_US
dc.description.sponsorshipESID Scholarship of the European Society for Immunodeficiencies; Health Care Innovation grant (Zorgvernieuwingsproject)en_US
dc.description.sponsorshipThe authors thank Mrs. Marieke Comans-Bitter for her preparation of the figures. This study has been supported by an ESID Scholarship of the European Society for Immunodeficiencies (TT) and by a Health Care Innovation grant (Zorgvernieuwingsproject) (JJMvD, MvdB).en_US
dc.identifier.doi10.1007/s00431-008-0718-xen_US
dc.identifier.endpage93en_US
dc.identifier.issn0340-6199en_US
dc.identifier.issue1en_US
dc.identifier.pmid18509675en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage87en_US
dc.identifier.urihttps://dx.doi.org/10.1007/s00431-008-0718-x
dc.identifier.urihttps://hdl.handle.net/20.500.12395/23356
dc.identifier.volume168en_US
dc.identifier.wosWOS:000261178200014en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSPRINGERen_US
dc.relation.ispartofEUROPEAN JOURNAL OF PEDIATRICSen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectSevere combined immunodeficiencyen_US
dc.subjectZAP70en_US
dc.subjectT-cell receptor signalingen_US
dc.subjectT-cellsen_US
dc.titleClinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiencyen_US
dc.typeArticleen_US

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