نتایج جستجو برای: severe combined immunodeficiency scid

تعداد نتایج: 787021  

Journal: :Infection and immunity 2005
Qilong Xu Sunita V Seemanapalli Larry Lomax Kristy McShan Xin Li Erol Fikrig Fang Ting Liang

Borrelia burgdorferi, the Lyme disease spirochete, has a genome comprised of a linear chromosome and up to 21 plasmids. Loss of plasmids is associated with decreased infectivity and pathogenicity. Sixteen transformants were generated by transforming the noninfectious clone 5A13 with the recombinant plasmid pBBE22. The transformants were classified into nine groups based on plasmid content analy...

2017
Aisha V. Sauer Raisa Jofra Hernandez Francesca Fumagalli Veronica Bianchi Pietro L. Poliani Chiara Dallatomasina Elisa Riboni Letterio S. Politi Antonella Tabucchi Filippo Carlucci Miriam Casiraghi Nicola Carriglio Manuela Cominelli Carlo Alberto Forcellini Federica Barzaghi Francesca Ferrua Fabio Minicucci Stefania Medaglini Letizia Leocani Giancarlo la Marca Lucia D. Notarangelo Chiara Azzari Giancarlo Comi Cristina Baldoli Sabrina Canale Maria Sessa Patrizia D’Adamo Alessandro Aiuti

Adenosine Deaminase (ADA) deficiency is an autosomal recessive variant of severe combined immunodeficiency (SCID) caused by systemic accumulation of ADA substrates. Neurological and behavioral abnormalities observed in ADA-SCID patients surviving after stem cell transplantation or gene therapy represent an unresolved enigma in the field. We found significant neurological and cognitive alteratio...

Journal: :The Journal of Experimental Medicine 1990
M A Duchosal P J McConahey C A Robinson F J Dixon

To study the role of peripheral blood leukocytes (PBL) in the pathogenesis of human systemic lupus erythematosus (SLE), we transferred PBL from 5 SLE patients into 15 severe combined immunodeficiency (SCID) mice. Such reconstituted mice showed long-term presence of auto-antibodies characteristic of the donor in their sera, as well as human immunoglobulin deposition, and in some cases mouse C3, ...

Journal: :Clinical immunology 2009
Arturo Borzutzky Brian Crompton Anke K Bergmann Silvia Giliani Sachin Baxi Madelena Martin Ellis J Neufeld Luigi D Notarangelo

Hereditary folate malabsorption is a rare inborn error of metabolism due to mutations in the proton-coupled folate transporter (PCFT). Clinical presentation of PCFT deficiency may mimic severe combined immune deficiency (SCID). We report a 4-month-old female who presented with failure to thrive, normocytic anemia, Pneumocystis jirovecii pneumonia and systemic cytomegalovirus infection. Immunolo...

Journal: :Haematologica 1999
P Perutelli F Lerzo G Calza M Cevasco P G Mori

chio M, Porta F. Rapid regeneration of normally functional naive CD4+ T-cells after bone marrow transplantation from unrelated donors for combined immunodeficiency. Blood 1998; 92:3484-6. 7. Mackall CL, Hakim FT, Gress RE. T-cell regeneration: all repertoires are not created equal. Immunol Today 1997; 18:245-51. 8. Dickinson AM, Reid MM, Abinum M, et al. In vitro T cell depletion using Campath ...

Journal: :The Journal of clinical investigation 2015
Jolan E Walter Lindsey B Rosen Krisztian Csomos Jacob M Rosenberg Divij Mathew Marton Keszei Boglarka Ujhazi Karin Chen Yu Nee Lee Irit Tirosh Kerry Dobbs Waleed Al-Herz Morton J Cowan Jennifer Puck Jack J Bleesing Michael S Grimley Harry Malech Suk See De Ravin Andrew R Gennery Roshini S Abraham Avni Y Joshi Thomas G Boyce Manish J Butte Kari C Nadeau Imelda Balboni Kathleen E Sullivan Javeed Akhter Mehdi Adeli Reem A El-Feky Dalia H El-Ghoneimy Ghassan Dbaibo Rima Wakim Chiara Azzari Paolo Palma Caterina Cancrini Kelly Capuder Antonio Condino-Neto Beatriz T Costa-Carvalho Joao Bosco Oliveira Chaim Roifman David Buchbinder Attila Kumanovics Jose Luis Franco Tim Niehues Catharina Schuetz Taco Kuijpers Christina Yee Janet Chou Michel J Masaad Raif Geha Gulbu Uzel Rebecca Gelman Steven M Holland Mike Recher Paul J Utz Sarah K Browne Luigi D Notarangelo

Patients with mutations of the recombination-activating genes (RAG) present with diverse clinical phenotypes, including severe combined immune deficiency (SCID), autoimmunity, and inflammation. However, the incidence and extent of immune dysregulation in RAG-dependent immunodeficiency have not been studied in detail. Here, we have demonstrated that patients with hypomorphic RAG mutations, espec...

Journal: :Science 2002
Alessandro Aiuti Shimon Slavin Memet Aker Francesca Ficara Sara Deola Alessandra Mortellaro Shoshana Morecki Grazia Andolfi Antonella Tabucchi Filippo Carlucci Enrico Marinello Federica Cattaneo Sergio Vai Paolo Servida Roberto Miniero Maria Grazia Roncarolo Claudio Bordignon

Hematopoietic stem cell (HSC) gene therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID) has shown limited clinical efficacy because of the small proportion of engrafted genetically corrected HSCs. We describe an improved protocol for gene transfer into HSCs associated with nonmyeloablative conditioning. This protocol was used in two patients for whom enzyme re...

Journal: :Investigative ophthalmology & visual science 2017
Stéphanie Lemaitre Florent Poyer Sergio Marco Paul Fréneaux François Doz Isabelle Aerts Laurence Desjardins Nathalie Cassoux Carole D Thomas

Purpose Because retinoblastoma therapies have many adverse effects, new approaches must be developed and evaluated on animal models. We describe orthotopic xenograft models of retinoblastoma using different strains of mice, suitable for this purpose. Methods Human retinoblastoma tumors were established on immunodeficient mice by subcutaneous engraftment of tumors from enucleated eyes. The ort...

2002
Genoveffa Franchini Barbara K. Felber James Tartaglia George N. Pavlakis David C. Montefiori Zdenek Hel Janos Nacsa Elzbieta Tryniszewska Wen-Po Tsai Robyn Washington Parks

Journal: :Infection and immunity 1999
A W Cheever R W Poindexter T A Wynn

Mice with severe combined immunodeficiency (SCID mice) lack functional B and T cells. Egg laying by Schistosoma mansoni and S. japonicum was delayed in SCID mice, but in a matter of weeks worm fecundity was equivalent to that in intact mice. SCID mice formed smaller hepatic granulomas and showed less fibrosis than did intact mice. The reduction in egg-associated pathology in SCID mice correlate...

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