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	Pour les 21 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page :	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		Comment on: ‘Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors’ by Giannelou et al : mutations in TRNT1 result in a constitutive activation of type I interferon signalling Marie-Louise Frémond , Isabelle Melki , Sven Kracker , Vincent Bondet , Darragh Duffy , et al. Annals of the Rheumatic Diseases, 2018, ⟨10.1136/annrheumdis-2018-213745⟩ Article dans une revue pasteur-01819255v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Heterozygous RELA mutations cause early-onset systemic lupus erythematosus by hijacking the NF-κB pathway towards transcriptional activation of type-I Interferon genes Laura Barnabei , Hicham Lamrini , Mathieu Castela , Nadia Jeremiah , Marie-Claude Stolzenberg , et al. 2020 Pré-publication, Document de travail hal-03001914v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Increased activation of PI3 kinase-δ predisposes to B cell lymphoma. Anne Durandy , Sven Kracker Blood, 2020, ⟨10.1182/blood.2019002072⟩ Article dans une revue hal-02489805v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		MAGT1 DEFICIENCY CAUSES A PROMINENT PLATELETS DYSFUNCTION THROUGH IMPAIRMENT OF MEMBRANE GLYCOPROTEINS N-GLYCOSYLATION Alexandre Kauskot , Coralie Mallebranche , Jean Solarz , Miao Feng , Toscane Viellard , et al. 20th Biennial Meeting of the European Society for Immunodeficiencies (ESID), Oct 2022, Gothenburg, Sweden. Abstract 801 Poster de conférence hal-04455514v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination Elin Enervald , Likun Du , Torkild Visnes , Andrea Björkman , Emma Lindgren , et al. Journal of Experimental Medicine, 2013, 210 (12), pp.2503-2513. ⟨10.1084/jem.20130168⟩ Article dans une revue hal-02142266v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency Romane Thouenon , Loïc Chentout , Nidia Moreno-Corona , Lucie Poggi , Emilia Puig Lombardi , et al. Journal of Experimental Medicine, 2023, 220 (6), ⟨10.1084/jem.20221292⟩ Article dans une revue hal-04029076v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Loss of ARHGEF1 causes a human primary antibody deficiency Amine Bouafia , Sébastien Lofek , Julie Bruneau , Loïc Chentout , Hicham Lamrini , et al. Journal of Clinical Investigation, 2019, 129 (3), pp.1047-1060. ⟨10.1172/jci120572⟩ Article dans une revue hal-02323397v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing Mathieu Fusaro , Jérémie Rosain , Virginie Grandin , Nathalie Lambert , Sylvain Hanein , et al. Journal of Allergy and Clinical Immunology, 2020, ⟨10.1016/j.jaci.2020.05.046⟩ Article dans une revue hal-03066033v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Successful in utero stem cell transplantation in X-linked severe combined immunodeficiency Alessandra Magnani , Jean-Marie Jouannic , Jeremie Rosain , Aurélie Gabrion , Fabien Touzot , et al. Blood Advances, 2019, 3 (3), pp.237-241. ⟨10.1182/bloodadvances.2018023176⟩ Article dans une revue hal-02323452v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1) Lucie Heurtier , Hicham Lamrini , Loïc Chentout , Marie-Céline Deau , Amine Bouafia , et al. Haematologica, 2017, 102 (7), pp.e278-e281. ⟨10.3324/haematol.2017.167601⟩ Article dans une revue hal-02489810v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Clinical and immunologic phenotype associated with activated ă phosphoinositide 3-kinase delta syndrome 2: A cohort study Elodie Elkaim , Bénédicte Neven , Julie Bruneau , Kanako Mitsui-Sekinaka , Aurelie Stanislas , et al. Journal of Allergy and Clinical Immunology, 2016, 138 (1), pp.210+. ⟨10.1016/j.jaci.2016.03.022⟩ Article dans une revue hal-01482361v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells Rémy Rodriguez , Benjamin Fournier , Debora Jorge Cordeiro , Sarah Winter , Kazushi Izawa , et al. Journal of Experimental Medicine, 2019, 216 (12), pp.2800-2818. ⟨10.1084/jem.20190678⟩ Article dans une revue hal-02391542v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension Studies Nieves Diaz , Maria Juarez , Caterina Cancrini , Maximilian Heeg , Pere Soler-Palacín , et al. Journal of Immunology, 2020, pp.ji2000326. ⟨10.4049/jimmunol.2000326⟩ Article dans une revue hal-03009789v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction Francesc Català-Moll , Dieter Weichenhan , Pavlo Lutsik , Ángel Álvarez-Prado , Javier Rodríguez-Ubreva , et al. 2020 Pré-publication, Document de travail hal-03001930v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Activated PI3-Kinase Delta Syndrome (APDS)/p110d-Activating Mutations Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency (PASLI) Sven Kracker Encyclopedia of Medical Immunology, Springer New York, pp.1-4, 2018, ⟨10.1007/978-1-4614-9209-2_39-1⟩ Chapitre d'ouvrage hal-02487635v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene Chantal Lagresle-Peyrou , Sonia Luce , Farid Ouchani , Tayebeh Shabi Soheili , Hanem Sadek , et al. Journal of Allergy and Clinical Immunology, 2016, 138 (6), pp.1681-1689.e8. ⟨10.1016/j.jaci.2016.04.032⟩ Article dans une revue hal-01439360v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling Nidia Moreno-Corona , Loïc Chentout , Lucie Poggi , Romane Thouenon , Cecile Masson , et al. Frontiers in Pediatrics, 2021, 9, pp.688022. ⟨10.3389/fped.2021.688022⟩ Article dans une revue insu-03369725v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		UnAIDed Class Switching in Activated B-Cells Reveals Intrinsic Features of a Self-Cleaving IgH Locus Iman Dalloul , Brice Laffleur , Zeinab Dalloul , Batoul Wehbi , Florence Jouan , et al. Frontiers in Immunology, 2021, 12, ⟨10.3389/fimmu.2021.737427⟩ Article dans une revue hal-03475084v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A case report of Folliculin interacting protein 1 deficiency Nidia Moreno-Corona , Alice Valagussa , Romane Thouenon , Alain Fischer , Sven Kracker Journal of Clinical Immunology, In press, ⟨10.1007/s10875-023-01559-8⟩ Article dans une revue hal-04173110v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry Maria Elena Maccari , Hassan Abolhassani , Asghar Aghamohammadi , Alessandro Aiuti , Olga Aleinikova , et al. Frontiers in Immunology, 2018, 9, ⟨10.3389/fimmu.2018.00543⟩ Article dans une revue hal-02323316v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		From dysgammaglobulinemia to autosomal dominant activation-induced cytidine deaminase deficiency: unraveling the mystery behind an inherited immunodeficiency first described 56 years ago Jehane Fadlallah , Loic Chentout , Bertrand Boisson , Aurore Pouliet , Cecile Masson , et al. The Journal of Pediatrics, 2020, 223, ⟨10.1016/j.jpeds.2020.03.024⟩ Article dans une revue hal-03009448v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

Comment on: ‘Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors’ by Giannelou et al : mutations in TRNT1 result in a constitutive activation of type I interferon signalling

Heterozygous RELA mutations cause early-onset systemic lupus erythematosus by hijacking the NF-κB pathway towards transcriptional activation of type-I Interferon genes

Increased activation of PI3 kinase-δ predisposes to B cell lymphoma.

MAGT1 DEFICIENCY CAUSES A PROMINENT PLATELETS DYSFUNCTION THROUGH IMPAIRMENT OF MEMBRANE GLYCOPROTEINS N-GLYCOSYLATION

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency

Loss of ARHGEF1 causes a human primary antibody deficiency

Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing

Successful in utero stem cell transplantation in X-linked severe combined immunodeficiency

Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1)

Clinical and immunologic phenotype associated with activated ă phosphoinositide 3-kinase delta syndrome 2: A cohort study

Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells

Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension Studies

Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction

Activated PI3-Kinase Delta Syndrome (APDS)/p110d-Activating Mutations Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency (PASLI)

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene

Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling

UnAIDed Class Switching in Activated B-Cells Reveals Intrinsic Features of a Self-Cleaving IgH Locus

A case report of Folliculin interacting protein 1 deficiency

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

From dysgammaglobulinemia to autosomal dominant activation-induced cytidine deaminase deficiency: unraveling the mystery behind an inherited immunodeficiency first described 56 years ago