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

by Heurtier, Lucie, Lamrini, Hicham, Chentout, Loïc, Deau, Marie-Céline, Bouafia, Amine, Rosain, Jérémie, Plaza, Jean-Marc, Parisot, Mélanie, Dumont, Benoit, Turpin, Delphine, Merlin, Etienne, Moshous, Despina, Aladjidi, Nathalie, Neven, Bénédicte, Picard, Capucine, Cavazzana, Marina, Fischer, Alain, Durandy, Anne, Stephan, Jean-Louis, Kracker, Sven
Published in Haematologica (2017)

Loss of ARHGEF1 causes a human primary antibody deficiency

by Bouafia, Amine, Lofek, Sébastien, Bruneau, Julie, Chentout, Loïc, Lamrini, Hicham, Trinquand, Amélie, Deau, Marie-Céline, Heurtier, Lucie, Meignin, Véronique, Picard, Capucine, Macintyre, Elizabeth, Alibeu, Olivier, Bras, Marc, Molina, Thierry Jo, Cavazzana, Marina, André-Schmutz, Isabelle, Durandy, Anne, Fischer, Alain, Oksenhendler, Eric, Kracker, Sven
Published in J Clin Invest (2019)