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