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Your search keyword '"Lopez-Lerma, Ingrid"' showing total 7 results
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7 results on '"Lopez-Lerma, Ingrid"'

1. Clinical and functional spectrum of RAC2-related immunodeficiency

Author

Donkó, Ágnes, Sharapova, Svetlana O., Kabat, Juraj, Ganesan, Sundar, Hauck, Fabian H., Bergerson, Jenna R. E., Marois, Louis, Abbott, Jordan, Moshous, Despina, Williams, Kelli W., Campbell, Nicholas, Martin, Paul L., Lagresle-Peyrou, Chantal, Trojan, Timothy, Kuzmenko, Natalia B., Deordieva, Ekaterina A., Raykina, Elena V., Abers, Michael S., Abolhassani, Hassan, Barlogis, Vincent, Milla, Carlos, Hall, Geoffrey, Mousallem, Talal, Church, Joseph, Kapoor, Neena, Cros, Guilhem, Chapdelaine, Hugo, Franco-Jarava, Clara, Lopez-Lerma, Ingrid, Miano, Maurizio, Leiding, Jennifer W., Klein, Christoph, Stasia, Marie José, Fischer, Alain, Hsiao, Kuang-Chih, Martelius, Timi, Sepännen, Mikko R. J., Barmettler, Sara, Walter, Jolan, Masmas, Tania N., Mukhina, Anna A., Falcone, Emilia Liana, Kracker, Sven, Shcherbina, Anna, Holland, Steven M., Leto, Thomas L., and Hsu, Amy P.

Abstract

•RAC2 mutations define phenotype: constitutively active, RAS-like cause SCID, dominant-negative resembleLAD, dominant-activating cause CID.•RAC2 mutant proteins exhibit aberrant function although no singular test is sufficient to determine functional consequence.

Published
2024
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2. Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome

Author

Prasad, Aparna, Rabionet, Raquel, Espinet, Blanca, Zapata, Luis, Puiggros, Anna, Melero, Carme, Puig, Anna, Sarria-Trujillo, Yaris, Ossowski, Stephan, Garcia-Muret, Maria P., Estrach, Teresa, Servitje, Octavio, Lopez-Lerma, Ingrid, Gallardo, Fernando, Pujol, Ramon M., and Estivill, Xavier

Abstract

Sézary syndrome is a leukemic form of cutaneous T-cell lymphoma with an aggressive clinical course. The genetic etiology of the disease is poorly understood, with chromosomal abnormalities and mutations in some genes being involved in the disease. The goal of our study was to understand the genetic basis of the disease by looking for driver gene mutations and fusion genes in 15 erythrodermic patients with circulating Sézary cells, 14 of them fulfilling the diagnostic criteria of Sézary syndrome. We have discovered genes that could be involved in the pathogenesis of Sézary syndrome. Some of the genes that are affected by somatic point mutations include ITPR1, ITPR2, DSC1, RIPK2, IL6,and RAG2, with some of them mutated in more than one patient. We observed several somatic copy number variations shared between patients, including deletions and duplications of large segments of chromosome 17. Genes with potential function in the T-cell receptor signaling pathway and tumorigenesis were disrupted in Sézary syndrome patients, for example, CBLB, RASA2, BCL7C, RAMP3, TBRG4, and DAD1. Furthermore, we discovered several fusion events of interest involving RASA2, NFKB2, BCR, FASN, ZEB1, TYK2, and SGMS1. Our work has implications for the development of potential therapeutic approaches for this aggressive disease.

Published
2016
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3. Short Communication Aggressive Adult T Cell Leukemia/Lymphoma: The Tip of the Iceberg of the Hidden Human T Cell Lymphotropic Virus Type 1 Infection Burden in Nonendemic Countries.

Author

Lopez-Lerma, Ingrid, Caballero, Estrella, Palacio, Carlos, and Garcia-Patos, Vicente

Abstract

Adult T cell leukemia/lymphoma has only rarely been reported in Europe. We aimed to determine the clinical characteristics and outcome of adult T cell leukemia/lymphoma patients in a nonendemic country. Cases of adult T cell leukemia/lymphoma managed at Hospital Universitari Vail d'Hebron, Barcelona, Spain were re-viewed. Information on the foreign population living in Spain, according to country of origin, was obtained using official published data from the National Statistics Institute. Three patients were diagnosed with adult T cell leukemia/lymphoma between 2003 and 2010. Two cases were of the acute subtype and one case of the lymphoma subtype. Two patients were female and the mean age at presentation was 41.3 years. Patients originated from three different countries. The characteristics of the attended patients include widespread enlargement of the lymph nodes, a variety of multiple extranodal involvements, bone marrow infiltration, and a high incidence of infections including latent parasitic infections. Prototypic adult T cell leukemia/lymphoma presenting with high white cell counts, flower cells, and hypercalcemia was not observed. Regarding therapy, one patient received chemotherapy alone and two subjects combined first-line therapy including antiviral drugs. Of the three patients, two are dead (mean survival time 6 months) and one has been lost to follow-up. We estimate that at least 15,000 people living in Spain are infected with human T cell lymphotropic virus type 1 (HTLV-1). Adult T cell leukemia/lymphoma is a heterogeneous disease that often presents without distinguishing or prototypical features. A high index of clinical suspicion is essential for diagnosis. Several epidemiological differences have been observed in different countries. Today, HTLV-1 infection is highly underdiagnosed. [ABSTRACT FROM AUTHOR]

Published
2013
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