Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID

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dc.contributor.authorKaraca, Neslihan Edeer
dc.contributor.authorAksu, Guzide
dc.contributor.authorGenel, Ferah
dc.contributor.authorGulez, Nesrin
dc.contributor.authorCan, Sema
dc.contributor.authorAydinok, Yesim
dc.contributor.authorAksoylar, Serap
dc.contributor.authorKaraca, Emin
dc.contributor.authorAltuglu, Imren
dc.contributor.authorKutukculer, Necil
dc.date.accessioned2019-10-27T21:19:04Z
dc.date.available2019-10-27T21:19:04Z
dc.date.issued2009
dc.departmentEge Üniversitesien_US
dc.description.abstractSevere combined immunodeficiencies (SCID) comprise a spectrum of genetic defects that involve both humoral and cellular immunities. Defects in recombinating activating gene 1 (RAG1), RAG2, Artemis, or LIG4 can disrupt V(D)J recombination. Defective V(D)J recombination of the T and B cell receptors is responsible for T(-)B(-)NK(+)SCID. Amorphic mutations in RAG1 and RAG2 cause T(-)B(-)NK(+)SCID, whereas hypomorphic mutations cause an immunodeficency characterized by oligoclonal expansion of TCR gamma delta T cells, severe CMV infection and autoimmunity. First patient is a typical T(-)B(-)NK(+)SCID with clinical and immunologic findings while the second is atypical with normal immunoglobulin levels, CD4 lymphopenia, elevated TCR gamma delta T cells, persistent CMV infection, and autoimmune hemolytic anemia. These cases are presented to emphasize that mutations in RAG1 gene may lead to a diverse spectrum of clinical and immunologic findings while hypomorphic mutations may be related with autoimmunity and refractory CMV infection during infancy.en_US
dc.identifier.doi10.1007/s10238-009-0053-1en_US
dc.identifier.endpage342en_US
dc.identifier.issn1591-8890
dc.identifier.issue4en_US
dc.identifier.pmid19458910en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage339en_US
dc.identifier.urihttps://doi.org/10.1007/s10238-009-0053-1
dc.identifier.urihttps://hdl.handle.net/11454/44090
dc.identifier.volume9en_US
dc.identifier.wosWOS:000270648500014en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofClinical and Experimental Medicineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectRAG1 mutationsen_US
dc.subjectCMVen_US
dc.subjectAutoimmunityen_US
dc.subjectImmunodeficiencyen_US
dc.titleDiverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCIDen_US
dc.typeArticleen_US

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