PB2295: EVANS SYNDROME AND PHENOTYPIC HETEROGENEITY OF SASH3 GERMLINE LOSS-OF-FUNCTION MUTATIONS BEYOND X-LINKED IMMUNODEFICIENCY

por Berner, J., Novak, W., Jimenez-Heredia, R., Kager, L., Boztug, K.
Publicado 2022

P1531: HETEROGENEITY OF DISEASE-CAUSING GENOTYPES BETWEEN FAMILIES WITH HEREDITARY SPHEROCYTOSIS: A SINGLE-CENTER COHORT STUDY

por Jimenez Heredia, R., Kager, L., Zeitlhofer, P., Novak, W., Eder, S., Segarra Roca, A., Nebral, K., Haimel, M., Geyeregger, R., Haas, O., Boztug, K.
Publicado 2022

P1408: MONOALLELIC AND BIALLELIC GERMLINE MUTATIONS AFFECTING THE TRANSCRIPTION FACTOR HELIOS CAUSE PLEIOTROPIC DEFECTS OF IMMUNITY

por Mayr, D., Shahin, T., Shoeb, M., Kuehn, H. S., Hoeger, B., Giuliani, S., Gawriyski, L., Yüce Petronczki, Ö., Hadjadj, J., Köstel Bal, S., Zoghi, S., Haimel, M., Jimenez Heredia, R., Boutboul, D., Triebwasser, M., Rialland-Battisti, F., Tangye, S., Fleisher, T., Rezaei, N., Romberg, N., Latour, S., Varjosalo, M., Halbritter, F., Rieux-Laucat, F., Castanon, I., Rosenzweig, S., Boztug, K.
Publicado 2022

PB2271: GERMLINE LOSS OF RHOG IDENTIFIES ITS ROLE AS AN ESSENTIAL REGULATOR OF HUMAN LYMPHOCYTE CYTOTOXICITY

por Kalinichenko, A., Casoni, G. P., Dupré, L., Trotta, L., Huemer, J., Galgano, D., German, Y., Haladik, B., Pazmandi, J., Thian, M., Yüce Petronczki, Ö., Chiang, S. C., Taskinen, M., Hekkala, A., Kauppila, S., Lindgren, O., Tapiainen, T., Kraakman, M. J., Vettenranta, K., Lomakin, A. J., Saarela, J., Seppänen, M. R., Bryceson, Y. T., Boztug, K.
Publicado 2022

Early-onset inflammatory bowel disease caused by mutant IL10 receptor

por Glocker, E O, Kotlarz, D, Boztug, K, Gertz, E M, Schäffer, A A, Noyan, F, Perro, M, Diestelhorst, J, Allroth, A, Murugan, D, Hätscher, N, Pfeifer, D, Sykora, K W, Sauer, M, Kreipe, H, Lacher, M, Nustede, R, Woellner, C, Baumann, U, Salzer, U, Koletzko, S, Shah, N, Segal, A W, Sauerbrey, A, Buderus, S, Snapper, S B, Grimbacher, B, Klein, C
Publicado 2010