Selective loss of function variants in IL6ST cause hyper-IgE syndrome with distinct impairments of T-cell phenotype and function by Shahin, T, Aschenbrenner, D, Cagdas, D, Bal, S, Conde, C, Garncarz, W, Medgyesi, D, Schwerd, T, Karaatmaca, B, Cetinkaya, P, Twigg, S, Cant, A, Wilkie, A, Tezcan, I, Uhlig, H, Boztug, K

Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ by Swan, D, Aschenbrenner, D, Lamb, C, Chakraborty, K, Clark, J, Pandey, S, Engelhardt, K, Chen, R, Cavounidis, A, Ding, Y, Krasnogor, N, Carey, C, Acres, M, Needham, S, Cant, A, Arkwright, P, Chandra, A, Okkenhaug, K, Uhlig, H, Hambleton, S

CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome. by Notarangelo, L, Peitsch, M, Abrahamsen, T, Bachelot, C, Bordigoni, P, Cant, A, Chapel, H, Clementi, M, Deacock, S, de Saint Basile, G, Duse, M, Espanol, T, Etzioni, A, Fasth, A, Fischer, A, Giliani, S, Gomez, L, Hammarstorm, L, Jones, A, Kanariou, M, Kinnon, C, Klemola, T, Kroczek, R, Levy, J, Matamoros, N

Dual proteolytic pathways govern glycolysis and immune competence. by Lu, W, Zhang, Y, McDonald, D, Jing, H, Carroll, B, Robertson, N, Zhang, Q, Griffin, H, Sanderson, S, Lakey, J, Morgan, N, Reynard, L, Zheng, L, Murdock, H, Turvey, S, Hackett, S, Prestidge, T, Hall, J, Cant, A, Matthews, H, Koref, M, Simon, A, Korolchuk, V, Lenardo, M, Hambleton, S, Su, H

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis by Schwerd, T, Twigg, SRF, Aschenbrenner, D, Manrique, S, Miller, KA, Taylor, IB, Capitani, M, McGowan, SJ, Sweeney, E, Weber, A, Chen, L, Bowness, P, Riordan, A, Cant, A, Freeman, AF, Milner, JD, Holland, SM, Frede, N, Müller, M, Schmidt-Arras, D, Grimbache, B, Wall, SA, Jones, EY, Wilkie, AOM, Uhlig, HH

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

Long term outcomes of 176 patients with X-linked hyper IgM syndrome treated with or without hematopoietic cell transplantation by de la Morena, M, Leonard, D, Torgerson, T, Cabral-Marques, O, Slatter, M, Aghamohammadi, A, Chandra, S, Murguia-Favela, L, Bonilla, F, Kanariou, M, Damrongwatanasuk, R, Kuo, C, Dvorak, C, Meyts, I, Chen, K, Kobrynski, L, Kapoor, N, Richter, D, DiGiovanni, D, Dhalla, F, Farmaki, E, Speckmann, C, Espanol, T, Shcherbina, A, Hanson, C, Litzman, J, Routes, J, Wong, M, Fuleihan, R, Seneviratne, S, Small, T, Janda, A, Bezrodnik, L, Seger, R, Raccio, A, Edgar, J, Chou, J, Abbott, J, van Montfrans, J, Gonzalez-Granado, L, Bunin, N, Kutukculer, N, Gray, P, Seminario, G, Pasic, S, Aquino, V, Wysocki, C, Abolhassani, H, Grunebaum, E, Dorsey, M, Costa Carvalho, B, Condino-Neto, A, Cunningham-Rundles, C, Knutsen, A, Sleasman, J, Chapel, H, Ochs, H, Filipovich, A, Cowan, M, Gennery, A, Cant, A, Notarangelo, L, Roifman, C