Person:
Recio Hoyas, María José

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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
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Author: Allende Martínez, Luis Miguel × Subject: 612.017 ×

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Now showing 1 - 3 of 3
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    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.
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    Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation
    (Frontiers in Immunology, 2019) Dominguez-Pinilla, Nerea; Perrig, Melina Soledad; Rodriguez Vigil-Iturrate, Carmen; Salmón-Rodriguez, Nerea; Martinez Faci, Cristina; Castro-Panete, María J.; Blas-Espada, Javier; López-Nevado, Marta; Ruiz-Garcia, Raquel; Chaparro-García, Rebeca; Recio Hoyas, María José; Allende Martínez, Luis Miguel; González Granado, Luis Ignacio
    Cernunnos/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.
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    Clinical and Immunological Features of Human BCL10 Deficiency
    (Frontiers in Immunologý, 2021) Garcia Solis, Blanca; Allende Martínez, Luis Miguel; Fernández Arquero, Miguel; Sánchez Ramón, Silvia María; Recio Hoyas, María José; Pérez de Diego, Rebeca
    The CARD-BCL10-MALT1 (CBM) complex is critical for the proper assembly of human immune responses. The clinical and immunological consequences of deficiencies in some of its components such as CARD9, CARD11, and MALT1 have been elucidated in detail. However, the scarcity of BCL10 deficient patients has prevented gaining detailed knowledge about this genetic disease. Only two patients with BCL10 deficiency have been reported to date. Here we provide an in-depth description of an additional patient with autosomal recessive complete BCL10 deficiency caused by a nonsense mutation that leads to a loss of expression (K63X). Using mass cytometry coupled with unsupervised clustering and machine learning computational methods, we obtained a thorough characterization of the consequences of BCL10 deficiency in different populations of leukocytes. We showed that in addition to the near absence of memory B and T cells previously reported, this patient displays a reduction in NK, γδT, Tregs, and TFH cells. The patient had recurrent respiratory infections since early childhood, and showed a family history of lethal severe infectious diseases. Fortunately, hematopoietic stem-cell transplantation (HSCT) cured her. Overall, this report highlights the importance of early genetic diagnosis for the management of BCL10 deficient patients and HSCT as the recommended treatment to cure this disease.