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A leaky mutation in CD3D differentially affects ¿¿ and ¿¿ T cells and leads to a T¿¿¿T¿¿+B+NK+ human SCID

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Gil, Juana & Busto, Elena M. & Garcillán, Beatriz & Chean, Carmen & García Rodríguez, Maria Cruz & Díaz Alderete, Andrea & Navarro, Joaquín & Reiné, Jesús & Mencía, Angeles & Gurbindo, Dolores & Beléndez, Cristina & Gordillo, Isabel & Duchniewicz, Marlena & Höhne, Kerstin & García Sánchez, Félix & Fernández Cruz, Eduardo & López Granados, Eduardo & Schamel, Wolfgang W.A. & Moreno Pelayo, Miguel Angel & Recio, María J. & Regueiro, José R. (2011-10 ) .A leaky mutation in CD3D differentially affects ¿¿ and ¿¿ T cells and leads to a T¿¿¿T¿¿+B+NK+ human SCID.

ISO 690

Gil, Juana & Busto, Elena M. & Garcillán, Beatriz & Chean, Carmen & García Rodríguez, Maria Cruz & Díaz Alderete, Andrea & Navarro, Joaquín & Reiné, Jesús & Mencía, Angeles & Gurbindo, Dolores & Beléndez, Cristina & Gordillo, Isabel & Duchniewicz, Marlena & Höhne, Kerstin & García Sánchez, Félix & Fernández Cruz, Eduardo & López Granados, Eduardo & Schamel, Wolfgang W.A. & Moreno Pelayo, Miguel Angel & Recio, María J. & Regueiro, José R.. 2011-10 .A leaky mutation in CD3D differentially affects ¿¿ and ¿¿ T cells and leads to a T¿¿¿T¿¿+B+NK+ human SCID.

https://hdl.handle.net/20.500.12080/39719
dc.contributor.author Gil, Juana
dc.contributor.author Busto, Elena M.
dc.contributor.author Garcillán, Beatriz
dc.contributor.author Chean, Carmen
dc.contributor.author García Rodríguez, Maria Cruz
dc.contributor.author Díaz Alderete, Andrea
dc.contributor.author Navarro, Joaquín
dc.contributor.author Reiné, Jesús
dc.contributor.author Mencía, Angeles
dc.contributor.author Gurbindo, Dolores
dc.contributor.author Beléndez, Cristina
dc.contributor.author Gordillo, Isabel
dc.contributor.author Duchniewicz, Marlena
dc.contributor.author Höhne, Kerstin
dc.contributor.author García Sánchez, Félix
dc.contributor.author Fernández Cruz, Eduardo
dc.contributor.author López Granados, Eduardo
dc.contributor.author Schamel, Wolfgang W.A.
dc.contributor.author Moreno Pelayo, Miguel Angel
dc.contributor.author Recio, María J.
dc.contributor.author Regueiro, José R.
dc.date.accessioned 2024-02-12T14:17:36Z
dc.date.available 2024-02-12T14:17:36Z
dc.date.created 2011-10
dc.date.issued 2011-10
dc.identifier.uri https://hdl.handle.net/20.500.12080/39719
dc.description.abstract T cells recognize antigens via their cell surface TCR and are classified as either ¿¿ or ¿¿ depending on the vari able chains in their TCR, ¿ and ¿ or ¿ and ¿, respectively. Both ¿¿ and ¿¿ TCRs also contain several invariant chains, including CD3¿, which support surface TCR expression and transduce the TCR signal. Mutations in variable chains would be expected to affect a single T cell lineage, while mutations in the invariant chains would affect all T cells. Consistent with this, all CD3¿-deficient patients described to date showed a complete block in T cell development. However, CD3¿-KO mice have an ¿¿ T cell¿specific defect. Here, we report 2 unre lated cases of SCID with a selective block in ¿¿ but not in ¿¿ T cell development, associated with a new splicing mutation in the CD3D gene. The patients¿ T cells showed reduced CD3D transcripts, CD3¿ proteins, surface TCR, and early TCR signaling. Their lymph nodes showed severe T cell depletion, recent thymus emigrants in peripheral blood were strongly decreased, and the scant ¿¿ T cells were oligoclonal. T cell¿dependent B cell functions were also impaired, despite the presence of normal B cell numbers. Strikingly, despite the specific loss of ¿¿ T cells, surface TCR expression was more reduced in ¿¿ than in ¿¿ T cells. Analysis of individuals with this CD3D mutation thus demonstrates the contrasting CD3¿ requirements for ¿¿ versus ¿¿ T cell devel opment and TCR expression in humans and highlights the diagnostic and clinical relevance of studying both TCR isotypes when a T cell defect is suspected. es_ES
dc.format application/pdf es_ES
dc.language eng es_ES
dc.rights CC-BY es_ES
dc.rights.uri http://creativecommons.org/licenses/by/4.0/deed.es es_ES
dc.title A leaky mutation in CD3D differentially affects ¿¿ and ¿¿ T cells and leads to a T¿¿¿T¿¿+B+NK+ human SCID es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.rights.accessrights info:eu-repo/semantics/openAccess es_ES
dc.identifier.location N/A es_ES


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