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A case of severe combined immunodeficiency caused by adenosine deaminase deficiency with a new mutation.

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dc.contributor.authorTurel, O
dc.contributor.authorAYGUN, D
dc.contributor.authorKARDAS, M
dc.contributor.authorTORUN, EMEL
dc.contributor.authorHERSHFIELD, M
dc.contributor.authorCAMCıOGLU, Y
dc.contributor.institutionauthorTÜREL, ÖZDEN
dc.contributor.institutionauthorTORUN, EMEL
dc.date.accessioned2019-10-05T15:20:55Z
dc.date.available2019-10-05T15:20:55Z
dc.date.issued2018-02-01
dc.description.abstractAdenosine deaminase (ADA) deficiency is among the most common causes of severe combined immunodeficiency, characterized by dysfunction of the T, B, and natural killer (NK) cells (T-B-NK-SCID) and severe lymphopenia.1 ADA is a key enzyme in the purine salvage pathway, the absence of which causes lymph-toxic deoxyadenosine triphospate (dATP) accumulation, inhibiting ribonucleotide reductase, a critical enzyme for DNA replication and repair. This effect impairs the lymphocyte development and function resulting in severe combined immune deficiency (SCID).1,2 ADA deficiency is autosomal recessively inherited through mutations in the ADA gene, which is located on chromosome 20q13.12. Herein, we will describe the identification of a novel splicing mutation in the ADA gene in a patient with SCIDen
dc.identifier10.1017/s0022215116009117
dc.identifier.citationTurel O., AYGUN D., KARDAS M., TORUN E., HERSHFIELD M., CAMCıOGLU Y., -A case of severe combined immunodeficiency caused by adenosine deaminase deficiency with a new mutation.-, Pediatrics and neonatology, cilt.59, ss.97-99, 2018
dc.identifier.doi10.1016/j.pedneo.2016.10.008
dc.identifier.pubmed28823388
dc.identifier.scopus85027395654
dc.identifier.urihttps://hdl.handle.net/20.500.12645/6067
dc.identifier.wosWOS:000434239600017
dc.language.isoen
dc.rightsinfo:eu-repo/semantics/openAccessen
dc.titleA case of severe combined immunodeficiency caused by adenosine deaminase deficiency with a new mutation.
dc.typeArticle
dspace.entity.typePublication
local.article.journalnameJOURNAL OF LARYNGOLOGY AND OTOLOGY
local.avesis.id9660a69d-f04e-4f2b-928b-bb5db55813f3
local.avesis.response5937
local.publication.isinternational1
relation.isAuthorOfPublicationfe4466b2-6cba-4c75-af61-11128a0a945e
relation.isAuthorOfPublication12c436eb-39a7-43ce-b99f-c585a4499848
relation.isAuthorOfPublication.latestForDiscoveryfe4466b2-6cba-4c75-af61-11128a0a945e
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