Rpsamutations in isolated congenital asplenia (ICA): A ribosomopathy unveiled by Bosch, B, Bolze, A, Boisson, B, Antipenko, A, Itan, Y, Copley, R, Sackstein, P, Kini, U, Pollard, A, Kumararatne, D, Pac, M, Von Bernuth, H, Selleri, L, Puel, A, Picard, C, Mahlaoui, N, Casanova, J

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency by Cottineau, J, Kottemann, M, Lach, F, Kang, Y, Vély, F, Deenick, E, Lazarov, T, Gineau, L, Wang, Y, Farina, A, Chansel, M, Lorenzo, L, Piperoglou, C, Ma, C, Nitschke, P, Belkadi, A, Itan, Y, Boisson, B, Jabot-Hanin, F, Picard, C, Bustamante, J, Eidenschenk, C, Boucherit, S, Aladjidi, N, Lacombe, D, Barat, P, Qasim, W, Hurst, J, Pollard, A, Uhlig, H, Fieschi, C, Michon, J, Bermudez, V, Abel, L, de Villartay, J, Geissmann, F, Tangye, S, Hurwitz, J, Vivier, E, Casanova, J, Smogorzewska, A, Jouanguy, E

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons by Bolze, A, Boisson, B, Bosch, B, Antipenko, A, Bouaziz, M, Sackstein, P, Chaker-Margot, M, Barlogis, V, Briggs, T, Colino, E, Elmore, A, Fischer, A, Genel, F, Hewlett, A, Jedidi, M, Kelecic, J, Krüger, R, Ku, C, Kumararatne, D, Lefevre-Utile, A, Loughlin, S, Mahlaoui, N, Markus, S, Garcia, J, Nizon, M, Oleastro, M, Pac, M, Picard, C, Pollard, A, Rodriguez-Gallego, C, Thomas, C, Von Bernuth, H, Worth, A, Meyts, I, Risolino, M, Selleri, L, Puel, A, Klinge, S, Abel, L, Casanova, J

An essential role for the Zn2+ transporter ZIP7 in B cell development by Anzilotti, C, Swan, D, Boisson, B, Deobagkar-Lele, M, Oliveira, C, Chabosseau, P, Englehardt, K, Xu, X, Chen, R, Alvarez, L, Berlinguer-Palmini, R, Bull, K, Cawthorne, E, Cribbs, A, Crockford, T, Dang, T, Fearn, A, Fenech, E, de Jong, S, Lagerholm, B, Ma, C, Sims, D, van den Berg, B, Xu, Y, Cant, A, Kleiner, G, Leahy, T, de la Morena, M, Puck, J, Shapiro, R, van der Burg, M, Chapman, J, Christianson, J, Davies, B, McGrath, J, Przyborski, S, Santibanez Koref, M, Tangye, S, Werner, A, Rutter, G, Padilla-Parra, S, Casanova, J, Cornall, R, Conley, M, Hambleton, S