Résultat de recherche

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

Sven KRACKER, Anne DURANDY, Marina Cavazzana

Source :

Pmid / DOI:

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

Sven KRACKER, Anne DURANDY

Source :

Pmid / DOI:

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

Source :

Pmid / DOI:

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

Source :

Pmid / DOI:

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.

Frédéric Rieux-Laucat, Sylvain Latour, Alain Fischer, Jean-Laurent CASANOVA , Anne DURANDY, Despina Moshous, Sven KRACKER

Source :

Pmid / DOI:

Topoisomerase 2β mutation impairs early B-cell development.

Olivier Hermine, Alain Fischer, Anne DURANDY, Sven KRACKER

Source :

Pmid / DOI:

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

Source :

Pmid / DOI:

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

Chantal LAGRESLE-PEYROU, Marina Cavazzana

Source :

Pmid / DOI:

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

Source :

Pmid / DOI:

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

Source :

Pmid / DOI: