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,
• Jérémie Rosain,
• Jean-Marc Plaza,
• Mélanie Parisot,
• Benoit Dumont,
• Delphine Turpin,
• Etienne Merlin,
• Despina Moshous,
• Nathalie Aladjidi,
• Bénédicte Neven,
• Capucine Picard,
• Marina Cavazzana,
• Alain Fischer,
• Anne Durandy,
• Jean-Louis Stephan,
• Sven Kracker

Affiliations

Lucie Heurtier

Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France;INSERM UMR 1163, Imagine Institute, Paris, France

Hicham Lamrini

Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France;INSERM UMR 1163, Imagine Institute, Paris, France

Loïc Chentout

Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France;INSERM UMR 1163, Imagine Institute, Paris, France

Marie-Céline Deau

Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France;INSERM UMR 1163, Imagine Institute, Paris, France

Amine Bouafia

Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France;INSERM UMR 1163, Imagine Institute, Paris, France

Jérémie Rosain

Study Center for Primary Immunodeficiencies, Assistance Publique Hôpitaux de Paris (AP-HP), Necker Children Hospital, Paris, France

Jean-Marc Plaza

Bioinformatic Platform, Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Saint-Etienne, Paris, France

Mélanie Parisot

Genomic Core Facility, Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Saint-Etienne, Paris, France

Benoit Dumont

Department of Pediatrics, Hôpital Nord, Saint-Etienne, Paris, France

Delphine Turpin

Laboratory of Immunology and Immunogenetics, Bordeaux University Hospital, Clermont-Ferrand, Paris, France

Etienne Merlin

Department of multidisciplinary Pediatrics, CHU d’Estaing, Clermont-Ferrand, Paris, France

Despina Moshous

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

Nathalie Aladjidi

Pediatric Hematologic Unit/CIC 1401, Inserm CICP, University Hospital of Bordeaux, Pediatric Hospital, Paris, France

Bénédicte Neven

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

Capucine Picard

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

Marina Cavazzana

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

Alain Fischer

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

Anne Durandy

Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France;INSERM UMR 1163, Imagine Institute, Paris, France

Jean-Louis Stephan

Department of Pediatrics, Hôpital Nord, Saint-Etienne, Paris, France

Sven Kracker

Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France;INSERM UMR 1163, Imagine Institute, Paris, France