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Successful RAG1-SCID gene therapy depends on the level of RAG1 expression.

Pike-Overzet, Karin Baum, Christopher Bredius, Robbert G M Marina Cavazzana Driessen, Gert-Jan Fibbe, Willem E Gaspar, H Bobby Hoeben, Rob C Lagresle-Peyrou, Chantal Lankester, Arjan ...

Published in Journal of Allergy and Clinical Immunology

Specific T cells for the treatment of cytomegalovirus and/or adenovirus in the context of hematopoietic stem cell transp... PDF available through Get Fulltext Research

Creidy, Rita Moshous, Despina Touzot, Fabien Elie, Caroline Neven, Bénédicte Gabrion, Aurélie Leruez-Ville, Marianne Maury, Sébastien Ternaux, Brigitte Nisoy, Jennifer ...

Published in Journal of Allergy and Clinical Immunology

Occurrence of B-cell lymphomas in patients with Activated Phosphoinositide 3-Kinase δ syndrome (APDS)

Kracker, Sven Curtis, James Ibrahim, Mohammad A.A. Sediva, Anna Salisbury, Jon Campr, Vit Debré, Marianne Edgar, J. David M. Imai, Kohsuke Picard, Capucine ...

Published in Journal of Allergy and Clinical Immunology

To the editor

Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activati...

Frémond, Marie-Louise Rodero, Mathieu Paul Jeremiah, Nadia Belot, Alexandre Jeziorski, Eric Duffy, Darragh Bessis, Didier Cros, Guilhem Rice, Gillian I. Charbit, Bruno ...

Published in Journal of Allergy and Clinical Immunology

To the Editor: Gain-of-function mutations in TMEM173 encoding stimulator of interferon genes (STING) underlie a novel type I interferonopathy,1 termed SAVI (STING-associated vasculopathy with onset in infancy).2, 3 This disease is associated with high childhood morbidity and mortality. STING is a central component of DNA sensing that leads to the...

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS defi...

Felgentreff, Kerstin Lee, Yu Nee Frugoni, Francesco Du, Likun van der Burg, Mirjam Giliani, Silvia Tezcan, Ilhan Reisli, Ismail Mejstrikova, Ester Jean-Pierre de Villartay ...

Published in Journal of Allergy and Clinical Immunology

Correlation between the nature and location of DCLRE1C mutations, functional activity, and the clinical phenotype has been observed. Hypomorphic variants that have been reported in the general population can be disease causing if combined in trans with a loss-of-function allele. Therapeutic strategies aimed at inducing overexpression of hypomorphic...

Systematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of cost-effec...

Alain Fischer Audrain, Marie Durand-Zaleski, Isabelle Clément, Marie Caroline Mahlaoui, Nizar Mignot, Cécile Le Bihan, Christine Rabetrano, Hasina Marina Cavazzana Neven, Bénédicte ...

Published in Journal of Allergy and Clinical Immunology

Background: The inclusion of severe combined immunodeficiency (SCID) in a Europe-wide screening program is currently debated. Objective: In making a case for inclusion in the French newborn screening program, we explored the costs incurred and potentially saved by early management of SCID. Methods: For test costs, a microcosting study documen...

Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency

Hauck Md, Fabian Clotilde Randriamampita Emmanuel Martin, Phdc St Ephane Gerart, Phda Nathalie Lambert As, Phd Lim Ms, Annick Soulier Md Phd, Jean Maciorowski Bs, Zosia Touzot Md Phd, Fabien Moshous Md Phd, Despina ...

Published in Journal of Allergy and Clinical Immunology

Signals emanating from the antigen T-cell receptor (TCR) are required for T-cell development and function. The T lymphocyte-specific protein tyrosine kinase (Lck) is a key component of the TCR signaling machinery. On the basis of its function, we considered LCK a candidate gene in patients with combined immunodeficiency. Objective: We identify and ...

Early-onset hypogammaglobulinemia: A survey of 44 patients

Brignier, Anne C. Mahlaoui, Nizar Reimann, Christian Picard, Capucine Kracker, Sven de Vergnes, Nathalie Frédéric Rieux-Laucat Frange, Pierre Suarez, Felipe Neven, Bénédicte ...

Published in Journal of Allergy and Clinical Immunology

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A ...

Lemoine, Roxane Pachlopnik-Schmid, Jana Farin, Henner F Bigorgne, Amélie Debré, Marianne Sepulveda, Fernando Héritier, Sébastien Lemale, Julie Talbotec, Cécile Frédéric Rieux-Laucat ...

Published in Journal of Allergy and Clinical Immunology

BACKGROUND: Inflammatory bowel disease (IBD) is one of the most common chronic gastrointestinal diseases, but the underlying molecular mechanisms remain largely unknown. Studies of monogenic diseases can provide insight into the pathogenesis of IBD. OBJECTIVE:We thought to determine the underlying molecular causes of IBD occurring in 2 unrelated fa...

Hyperinflammation in patients with chronic granulomatous disease leads to impairment of hematopoietic stem cell function...

Weisser, Maren Demel, Uta M. Stein, Stefan Chen-Wichmann, Linping Touzot, Fabien Santilli, Giorgia Sujer, Stefanie Brendel, Christian Siler, Ulrich Marina Cavazzana ...

Published in Journal of Allergy and Clinical Immunology

Background: Defects in phagocytic nicotinamide adenine dinucleotide phosphate oxidase 2 (NOX2) function cause chronic granulomatous disease (CGD), a primary immunodeficiency characterized by dysfunctional microbicidal activity and chronic inflammation. Objective: We sought to study the effect of chronic inflammation on the hematopoietic compartm...

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