Person:
Recio Hoyas, María José

First Name

María José

Last Name

Recio Hoyas

URI

https://hdl.handle.net/20.500.14352/79671

Affiliation

Universidad Complutense de Madrid

Faculty / Institute

Medicina

Department

Inmunología, Oftalmología y ORL

Area

Inmunología

Identifiers

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Now showing 1 - 9 of 9

Human congenital T-cell receptor disorders
(LymphoSign Journal, 2015) Marín Marín, Ana Victoria; Garcillán Goyoaga, Beatriz de; Jiménez Reinoso, Anaïs; Muñoz Ruiz, Miguel; Briones Contreras, Alejandro; Fernández Malavé, Edgar; Recio Hoyas, María José; Regueiro González-Barros, José Ramón
Immunodeficiencies of most T-cell receptor (TCR) components (TCRID) have been reported in almost 40 patients worldwide who have also, at times, shown signs of autoimmunity. We updated their clinical, immunological, and molecular features with an emphasis on practical diagnosis, as the range of the disorder grows in complexity with new partial defects. Cellular and animal models are also reviewed and in some cases reveal their limitations for predicting TCRID immunopathology.
T-cell receptor complex deficiency
(Primary immunodeficiency diseases, a molecular and genetic approach, 2013) Regueiro González-Barros, José Ramón; Recio Hoyas, María José
Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247
(The Journal of Allergy and Clinical Inmunology, 2017) Marín Marín, Ana Victoria; Jiménez Reinoso, Anaïs; Briones Contreras, Alejandro; Muñoz Ruiz, Miguel; Aydogmus, Cigdem; Pasick, Luke J; Couso, Jorge; Mazariegos, Marina S; Álvarez Prado, Ángel F; Blázquez Moreno, Alfonso; Cipe, Funda E; Haskologlu, Sule; Dogu, Figen; Morín, Matías; Moreno Pelayo, Miguel A; García Sánchez, Félix; Gil Herrera, Juana; Fernández Malavé, Edgar; Reyburn, Hugh T; Ramiro, Almudena R; Ikinciogullari,, Aydan; Recio Hoyas, María José; Regueiro González-Barros, José Ramón; Garcillán Goyoaga, Beatriz de
A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ−Tγδ+B+NK+ human SCID
(The Journal of Clinical Investigation, 2011) Gil Calle, Juana Nelly; Busto, Elena M; Garcillán Goyoaga, Beatriz de; Chean, Carmen; García Rodríguez, María Cruz; Díaz Alderete, Andrea; Navarro, Joaquín; Reiné Gutiérrez, Jesús; Mencía, Ángeles; 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 A; Recio Hoyas, María José; Regueiro González-Barros, José Ramón
T cells recognize antigens via their cell surface TCR and are classified as either αβ or γδ depending on the variable chains in their TCR, α and β or γ and δ, respectively. Both αβ and γδ TCRs also contain several invariant chains, including CD3δ, 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 CD3δ-deficient patients described to date showed a complete block in T cell development. However, CD3δ-KO mice have an αβ T cell–specific defect. Here, we report 2 unrelated cases of SCID with a selective block in αβ but not in γδ T cell development, associated with a new splicing mutation in the CD3D gene. The patients’ T cells showed reduced CD3D transcripts, CD3δ 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 αβ 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 αβ T cells, surface TCR expression was more reduced in γδ than in αβ T cells. Analysis of individuals with this CD3D mutation thus demonstrates the contrasting CD3δ requirements for αβ versus γδ T cell development and TCR expression in humans and highlights the diagnostic and clinical relevance of studying both TCR isotypes when a T cell defect is suspected.
Human CD3γ, but not CD3δ, haploinsufficiency differentially impairs γδ versus αβ surface TCR expression
(BMC Immunology, 2013) Muñoz Ruiz, Miguel; Pérez Flores, Verónica; Garcillán Goyoaga, Beatriz de; Guardo, Alberto C; Mazariegos, Marina S; Takada, Hidetoshi; Allende Martínez, Luis Miguel; Kilic, Sara S; Sanal, Ozden; Roifman, Chaim M; López Granados, Eduardo; Recio Hoyas, María José; Martínez Naves, Eduardo; Fernández Malavé, Edgar; Regueiro González-Barros, José Ramón
Background: The T cell antigen receptors (TCR) of αβ and γδ T lymphocytes are believed to assemble in a similar fashion in humans. Firstly, αβ or γδ TCR chains incorporatea CD3δε dimer, then a CD3γε dimer and finally a ζζ homodimer, resulting in TCR complexes with the same CD3 dimer stoichiometry. Partial reduction in the expression of the highly homologous CD3γ and CD3δ proteins would thus be expected to have a similar impact in the assembly and surface expression of both TCR isotypes. To test this hypothesis, we compared the surface TCR expression of primary αβ and γδ T cells from healthy donors carrying a single null or leaky mutation in CD3G (γ+/−) or CD3D (δ+/−, δ+/leaky) with that of normal controls. Results: Although the partial reduction in the intracellular availability of CD3γ or CD3δ proteins was comparable as a consequence of the mutations, surface TCR expression measured with anti-CD3ε antibodies was significantly more decreased in γδ than in αβ T lymphocytes in CD3γ+/− individuals, whereas CD3δ+/− and CD3δ+/leaky donors showed a similar decrease of surface TCR in both T cell lineages. Therefore, surface γδ TCR expression was more dependent on available CD3γ than surface αβ TCR expression. Conclusions: The results support the existence of differential structural constraints in the two human TCR isotypes regarding the incorporation of CD3γε and CD3δε dimers, as revealed by their discordant surface expression behaviour when confronted with reduced amounts of CD3γ, but not of the homologous CD3δ chain. A modified version of the prevailing TCR assembly model is proposed to accommodate these new data.
Virtualización de la asignatura de Inmunología
(III jornada Campus Virtual UCM : Innovación en el Campus Virtual metodologías y herramientas, 2007) Cabanillas, Beatriz; Regueiro González-Barros, José Ramón; Martínez Naves , Eduardo; Recio Hoyas, María José; Gómez del Moral Martín-Consuegra , Manuel María; Setién Baranda , Esteban Fernando; Fernández-Valmayor Crespo, Alfredo; Fernández-Pampillón Cesteros, Ana María; Merino Granizo, Jorge
La Universidad Complutense de Madrid es competitiva en docencia de Inmunología, no existiendo otra Universidad que cubra todas las diplomaturas y licenciaturas en las que hay carga docente de Inmunología [1]. Estas asignaturas, de pocos créditos pero con un temario muy denso, se beneficiarían de un soporte virtual que diera salida a muchas de las necesidades del alumno. Asimismo se ha comprobado que existe un buen material docente de Inmunología en Internet, aunque la mayoría de los contenidos se encuentran en inglés. Por ello los profesores participantes en el proyecto, con su amplia experiencia en innovación y mejora de la calidad docente [2], consideran que la Inmunología es susceptible de virtualizar con éxito.
Differential Biological Role of CD3 Chains Revealed by Human Immunodeficiencies
(The Journal of Inmunology, 2007) Recio Hoyas, María José; Miguel Angel Moreno Pelayo; Sara S. Kiliç; Alberto C. Guardo; Ozden Sanal; Allende Martínez, Luis Miguel; Verónica Pérez Flores; Angeles Mencía; Silvia Modamio Høybjør; Elena Seoane; Regueiro González-Barros, José Ramón
The biological role in vivo of the homologous CD3γ and δ invariant chains within the human TCR/CD3 complex is a matter of debate, as murine models do not recapitulate human immunodeficiencies. We have characterized, in a Turkish family, two new patients with complete CD3γ deficiency and SCID symptoms and compared them with three CD3γ-deficient individuals belonging to two families from Turkey and Spain. All tested patients shared similar immunological features such as a partial TCR/CD3 expression defect, mild αβ and γδ T lymphocytopenia, poor in vitro proliferative responses to Ags and mitogens at diagnosis, and very low TCR rearrangement excision circles and CD45RA+ αβ T cells. However, intrafamilial and interfamilial clinical variability was observed in patients carrying the same CD3G mutations. Two reached the second or third decade in healthy conditions, whereas the other three showed lethal SCID features with enteropathy early in life. In contrast, all reported human complete CD3δ (or CD3ε) deficiencies are in infants with life-threatening SCID and very severe αβ and γδ T lymphocytopenia. Thus, the peripheral T lymphocyte pool was comparatively well preserved in human CD3γ deficiencies despite poor thymus output or clinical outcome. We propose a CD3δ ≫ CD3γ hierarchy for the relative impact of their absence on the signaling for T cell production in humans.
Inmunodeficiencias congénitas del receptor de antígeno de los linfocitos T
(Inmunología, 2013) Mazariegos, Marina S; Muñoz Ruiz, Miguel; Reiné Gutiérrez, Jesús; Garcillán Goyoaga, Beatriz de; Recio Hoyas, María José; Fernández Malavé, Edgar; Regueiro González-Barros, José Ramón
Las inmunodeficiencias humanas del TCR son enfermedades autosómicas recesivas con baja prevalencia, caracterizadas por un defecto de expresión del TCR asociado a una linfopenia T selectiva (más leve en el caso de CD3γ, TCRα o CD247, o grave en el caso de CD3δ o CD3??). La ausencia congénita de componentes del TCR tiene un impacto diferencial en el desarrollo y función de los linfocitos T, que depende de la cadena del TCR afectada y de la especie, siendo en algunos casos diferente en los pacientes humanos en comparación con los modelos en ratones. El estudio del inmunofenotipo mediante citometría de flujo, junto con los estudios moleculares, proporciona información esencial para el diagnóstico y el tratamiento, que continúa siendo a día de hoy el trasplante de progenitores hematopoyéticos en los casos asociados a inmunodeficiencia grave.
Project number: 252
Competición de pósters científico/divulgativo como experiencia de inmersión al aprendizaje activo e integral por parte del alumnado de Ciencias de la Salud
(2018) Redondo-Muñoz, Javier; Regueiro González-Barros, José Ramón; Monroy Muñoz, Francisco; Gómez del Moral Martín-Consuegra, Manuel María; Marín Marín, Ana Victoria; Medrano García, Sandra; Juárez Martín-Delgado, Ignacio; Briones Contreras, Alejandro; Martín Adrados, Beatriz; Lafuente Duarte, María Esther; Recio Hoyas, María José; Castro Sánchez, Patricia; Cárdenas Mastracusa, Paula; Martínez Quiles, Narcisa; Sánchez-Mateos Rubio, María Paloma
Se implementará una actividad de desarrollo en grupos de alumnos de pósters científicos y divulgativos. Dicho aprendizaje facilitará la adquisición de competencias personales e interpersonales por parte del alumnado y fomentar futuras interacciones internacionales.