Aviso: para depositar documentos, por favor, inicia sesión e identifícate con tu cuenta de correo institucional de la UCM con el botón MI CUENTA UCM. No emplees la opción AUTENTICACIÓN CON CONTRASEÑA
 

Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation

Simple item page
dc.contributor.authorDominguez-Pinilla, Nerea
dc.contributor.authorPerrig, Melina Soledad
dc.contributor.authorRodriguez Vigil-Iturrate, Carmen
dc.contributor.authorSalmón-Rodriguez, Nerea
dc.contributor.authorMartinez Faci, Cristina
dc.contributor.authorCastro-Panete, María J.
dc.contributor.authorBlas-Espada, Javier
dc.contributor.authorLópez-Nevado, Marta
dc.contributor.authorRuiz-Garcia, Raquel
dc.contributor.authorChaparro-García, Rebeca
dc.contributor.authorRecio Hoyas, María José
dc.contributor.authorAllende Martínez, Luis Miguel
dc.contributor.authorGonzález Granado, Luis Ignacio
dc.date.accessioned2024-01-11T16:43:01Z
dc.date.available2024-01-11T16:43:01Z
dc.date.issued2019-01-07
dc.description.abstractCernunnos/XLF deficiency is a rare primary immunodeficiency classified within the DNA repair defects. Patients present with severe growth retardation, microcephaly, lymphopenia and increased cellular sensitivity to ionizing radiation. Here, we describe two unrelated cases with the same non-sense mutation in the NHEJ1 gene showing significant differences in clinical presentation and immunological profile but a similar DNA repair defect.
dc.description.departmentDepto. de Inmunología, Oftalmología y ORL
dc.description.facultyFac. de Medicina
dc.description.refereedTRUE
dc.description.sponsorshipFIS (Fondo de Investigación Sanitaria)
dc.description.sponsorshipMINECO (Ministerio de Economía y competitividad)
dc.description.sponsorshipCAM (Comunidad Autónoma de Madrid)
dc.description.statuspub
dc.identifier.citationRecio MJ, Dominguez-Pinilla N, Perrig MS, Rodriguez Vigil-Iturrate C, Salmón-Rodriguez N, Martinez Faci C, Castro-Panete MJ, Blas-Espada J, López-Nevado M, Ruiz-Garcia R, Chaparro-García R, Allende LM, Gonzalez-Granado LI. Front Immunol. 2019 Jan 7;9:2959.
dc.identifier.doi10.3389/fimmu.2018.02959
dc.identifier.issn1664-3224
dc.identifier.officialurlhttps://www.frontiersin.org/journals/immunology
dc.identifier.urihttps://hdl.handle.net/20.500.14352/92613
dc.journal.titleFrontiers in Immunology
dc.language.isoeng
dc.page.initial2959
dc.publisherFRONTIERS MEDIA SA
dc.relation.projectIDPI16/2053
dc.relation.projectIDPI16/0044
dc.relation.projectIDSAF2014-54708-R
dc.relation.projectIDSAF2016-81876-REDT
dc.relation.projectIDRTI2018-095673-B-I00
dc.relation.projectIDB2017/BMD3673
dc.rightsAttribution 4.0 Internationalen
dc.rights.accessRightsopen access
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subject.cdu612.017
dc.subject.keywordDNA repair
dc.subject.keywordNHEJ1 mutation
dc.subject.keywordXLF/Cernunnos
dc.subject.keywordLymphomagenesis
dc.subject.keywordRadiosensitive SCID (RS-SCID)
dc.subject.keywordSevere Combined Immunodeficiency.
dc.subject.ucmInmunología
dc.subject.unesco2412 Inmunología
dc.titleExtreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation
dc.typejournal article
dc.type.hasVersionVoR
dc.volume.number9
dspace.entity.typePublication
relation.isAuthorOfPublication436ddd6b-73c0-4f41-9d60-f15490326809
relation.isAuthorOfPublicatione5d88590-7bbf-4d46-84aa-6f2d8c8a47ea
relation.isAuthorOfPublicationc995f37e-fed0-445f-805b-c9f886aeacfc
relation.isAuthorOfPublication.latestForDiscovery436ddd6b-73c0-4f41-9d60-f15490326809

Download

Original bundle

Now showing 1 - 1 of 1
Thumbnail Image
Name:
fimmu_19.pdf
Size:
866.09 KB
Format:
Adobe Portable Document Format
downoload Download

Collections

Artículos