Résultat de recherche

From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years.

Loïc CHENTOUT, Bertrand Boisson, Aurore POULIET, Anne DURANDY, Jean-Laurent CASANOVA , Sven KRACKER

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Successful Preclinical Development of Gene Therapy for Recombinase-Activating Gene-1-Deficient SCID.

Chantal LAGRESLE-PEYROU, Marina Cavazzana

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NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.

Laëtitia Kermasson, Chantal LAGRESLE-PEYROU, Emmanuelle Ollivier, Alicia Fernandes, Jean-Pierre De Villartay, Patrick Revy

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Biosafety Studies of a Clinically Applicable Lentiviral Vector for the Gene Therapy of Artemis-SCID.

Chantal LAGRESLE-PEYROU, Alain Fischer, Jean-Pierre De Villartay, Marina Cavazzana

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Hematopoietic Stem Cell Transplant for the Treatment of X-MAID.

Chantal LAGRESLE-PEYROU, Bénédicte Neven

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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.

Marina Cavazzana, Alain Fischer, Despina Moshous, Bénédicte Neven, Felipe Suarez, Sven KRACKER

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Baboon envelope LVs efficiently transduced human adult, fetal, and progenitor T cells and corrected SCID-X1 T-cell deficiency.

Kuiying MA, Hanem SADEK, Marina Cavazzana, Chantal LAGRESLE-PEYROU, Isabelle André

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

Jérémie Rosain, Brigitte Bader-Meunier, Olivier Hermine, Felipe Suarez, Isabelle André, Vivien Beziat, Geneviève de Saint Basile, Jean-Pierre De Villartay, Sven KRACKER, Chantal LAGRESLE-PEYROU, Sylvain Latour, Frédéric Rieux-Laucat, Christine Bole, Patrick Nitschké, Alain Fischer, Despina Moshous, Bénédicte Neven, Alexandre Alcaïs, Jacinta Bustamante

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Intestinal immunoregulation: lessons from human mendelian diseases.

Fabienne CHARBIT-HENRION, Marianna Parlato, Georgia MALAMUT, Frank RUEMMELE, Nadine CERF-BENSUSSAN

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Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation.

Marianna Parlato, Fabienne CHARBIT-HENRION, Bernadette BEGUE, Nicolas GUEGAN, Olivier Hermine, Nadine CERF-BENSUSSAN , Georgia MALAMUT

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Loss-of-Function Mutation in PTPN2 Causes Aberrant Activation of JAK Signaling Via STAT and Very Early Onset Intestinal Inflammation.

Marianna Parlato, Fabienne CHARBIT-HENRION, Nadine CERF-BENSUSSAN , Bernadette BEGUE, Sylvain Latour, Rémi DUCLAUX-LORAS, Emmanuel Martin, Frédéric Rieux-Laucat

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