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

Haematologica. 2017 Jul;102(7):e278-e281. doi: 10.3324/haematol.2017.167601. Epub 2017 Apr 20.

Lucie Heurtier^{1

2}, Hicham Lamrini^{1

2}, Loïc Chentout^{1

2}, Marie-Céline Deau^{1

2}, Amine Bouafia^{1

2}, Jérémie Rosain³, Jean-Marc Plaza⁴, Mélanie Parisot⁵, Benoit Dumont⁶, Delphine Turpin⁷, Etienne Merlin⁸, Despina Moshous^{1

2

9}, Nathalie Aladjidi¹⁰, Bénédicte Neven^{1

2

9}, Capucine Picard^{1

2

3}, Marina Cavazzana^{1

2

11}, Alain Fischer^{1

2

9

12}, Anne Durandy^{1

2}, Jean-Louis Stephan⁶, Sven Kracker^{13

2}

¹ Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France.
² INSERM UMR 1163, Imagine Institute, Paris, France.
³ Study Center for Primary Immunodeficiencies, Assistance Publique Hôpitaux de Paris (AP-HP), Necker Children Hospital, Paris, France.
⁴ Bioinformatic Platform, Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Saint-Etienne, Paris, France.
⁵ Genomic Core Facility, Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Saint-Etienne, Paris, France.
⁶ Department of Pediatrics, Hôpital Nord, Saint-Etienne, Paris, France.
⁷ Laboratory of Immunology and Immunogenetics, Bordeaux University Hospital, Clermont-Ferrand, Paris, France.
⁸ Department of multidisciplinary Pediatrics, CHU d'Estaing, Clermont-Ferrand, Paris, France.
⁹ Department of Pediatric Immunology, Hematology and Rheumatology, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Children Hospital, Paris, France.
¹⁰ Pediatric Hematologic Unit/CIC 1401, Inserm CICP, University Hospital of Bordeaux, Pediatric Hospital, Paris, France.
¹¹ Biotherapy Department, Centre d'Investigation Clinique intégré en Biothérapies, Necker Children Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
¹² Collège de France, Paris, France.
¹³ Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France [email protected].

No abstract available

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