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

Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France;INSERM UMR 1163, Imagine Institute, Paris, France
Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France;INSERM UMR 1163, Imagine Institute, Paris, France
Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France;INSERM UMR 1163, Imagine Institute, Paris, France
Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France;INSERM UMR 1163, Imagine Institute, Paris, France
Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France;INSERM UMR 1163, Imagine Institute, Paris, France
Study Center for Primary Immunodeficiencies, Assistance Publique Hôpitaux de Paris (AP-HP), Necker Children Hospital, Paris, France
Bioinformatic Platform, Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Saint-Etienne, Paris, France
Genomic Core Facility, Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Saint-Etienne, Paris, France
Department of Pediatrics, Hôpital Nord, Saint-Etienne, Paris, France
Laboratory of Immunology and Immunogenetics, Bordeaux University Hospital, Clermont-Ferrand, Paris, France
Department of multidisciplinary Pediatrics, CHU d’Estaing, Clermont-Ferrand, Paris, France
Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France;INSERM UMR 1163, Imagine Institute, Paris, France;Department of Pediatric Immunology, Hematology and Rheumatology, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Children Hospital, Paris, France
Pediatric Hematologic Unit/CIC 1401, Inserm CICP, University Hospital of Bordeaux, Pediatric Hospital, Paris, France
Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France;INSERM UMR 1163, Imagine Institute, Paris, France;Department of Pediatric Immunology, Hematology and Rheumatology, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Children Hospital, Paris, France
Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France;INSERM UMR 1163, Imagine Institute, Paris, France;Study Center for Primary Immunodeficiencies, Assistance Publique Hôpitaux de Paris (AP-HP), Necker Children Hospital, Paris, France
Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France;INSERM UMR 1163, Imagine Institute, Paris, France;Biotherapy Department, Centre d’Investigation Clinique intégré en Biothérapies, Necker Children Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France;INSERM UMR 1163, Imagine Institute, Paris, France;Department of Pediatric Immunology, Hematology and Rheumatology, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Children Hospital, Paris, France;Collège de France, Paris, France
Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France;INSERM UMR 1163, Imagine Institute, Paris, France
Department of Pediatrics, Hôpital Nord, Saint-Etienne, Paris, France
Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France;INSERM UMR 1163, Imagine Institute, Paris, France
Vol. 102 No. 7 (2017): July, 2017 https://doi.org/10.3324/haematol.2017.167601