Person:
Ruiz Contreras, Jesús

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First Name
Jesús
Last Name
Ruiz Contreras
URI
https://hdl.handle.net/20.500.14352/79407
Affiliation
Universidad Complutense de Madrid
Faculty / Institute
Medicina
Department
Salud Pública y Materno-Infantil
Area
Pediatría
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2006 - 20082
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    A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome
    (Blood, 2006) Del-Rey, Manuel; Bosque, Alberto; Calleja, Sara; Gomez-Rial, Jose; Roldan, Ernesto; Morales, Pablo; Serrano, Antonio; Anel, Alberto; Ruiz Contreras, Jesús; Paz Artal, Estela Natividad; Allende Martínez, Luis Miguel
    Autoimmune lymphoproliferative syndrome (ALPS) is characterized by lymphoproliferation and autoimmune clinical manifestations and is generally caused by defective Fas-mediated apoptosis. This report describes the first homozygous FASL gene mutation in a woman with clinical and immunologic features of ALPS. T-cell blasts from the patient did not induce FasL-mediated apoptosis on Fas-transfected murine L1210 or on Jurkat cells, and activation-induced cell death was impaired. Furthermore, Fas-dependent cytotoxicity was drastically reduced in COS cells transfected with the mutant FasL. In addition, FasL expression on T-cell blasts from the patient was similar to that observed in a healthy control, despite its bearing the high-producer genotype -844C/C in the FASL promoter. Sequencing of the patient's FASL gene revealed a new mutation in exon 4 (A247E). The location of A247E in the FasL extracellular domain and the conservation of the protein sequence of that region recorded in 8 species different from humans support the essential role of FasL COOH terminal domain in Fas/FasL binding. These findings provide evidence that inherited nonlethal FASL abnormalities cause an uncommon apoptosis defect producing lymphoproliferative disease, and they highlight the need for a review of the current ALPS classification to include a new ALPS type Ic subgroup.
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    Longitudinal analysis of immune function in the first 3 years of life in thymectomized neonates during cardiac surgery
    (Clinical and Experimental Immunology, 2008) Mancebo Sierra, María Esther; J Clemente; J Sanchez; Ruiz Contreras, Jesús; P De Pablos; S Cortezon; E Romo; Paz Artal, Estela Natividad; Allende Martínez, Luis Miguel
    Summary The purpose of this study is to evaluate the effects of neonatal thymectomy in the functional capacity of the immune system. We selected a group of 23 subjects, who had undergone thymectomy in their first 30 days of life, during an intervention for congenital heart disease. Several parameters of the immune system were evaluated during their first 3 years of life. Lymphocyte populations and subpopulations (including naive, memory and effector subpopulations), T cell receptor (TCR) Vβ repertoire, response of T cells following in vitro stimulation by mitogen, quantification of immunoglobulins, TCR excision circles (TRECS) and interleukin (IL)-7 were measured. We found that neonatal thymectomy produces long-term diminution in total lymphocyte counts, especially in naive CD4+ and CD8+ T cells. Additionally, TRECS were decreased, and plasma IL-7 levels increased. A statistically significant negative correlation was found between absolute CD4+ T cells and IL-7 (r = −0·470, P = 0·02). The patients did not suffer more infectious events than healthy control children, but thymectomy in neonates resulted in a significant decrease in T lymphocyte levels and TRECS, consistent with cessation of thymopoiesis. This could produce a compromise in immune function later in life, especially if the patients suffer T cell depletion and need a reconstitution of immune function.