Novel heterozygous mutation in NFKB2 in a patient with predominantly antibody deficiency

Lorenzini, T., Fliegauf, M., Klammer, N., Frede, N., Proietti, M., Bulashevska, A., Camacho-Ordonez, N., Varjosalo, M., Kinnunen, M., de Vries, E., van der Meer, J.W.M., Ameratunga, R., Roifman, C.M., Schejter, Y.D., Kobbe, R., Hautala, T., Atschekzei, F., Schmidt, R.E., Schröder, C., Stepensky, P., Shadur, B., Pedroza, L.A., Flier, M.V.D., Martínez-Gallo, M., Gonzalez-Granado, L.I., Allende, L.M., Shcherbina, A., Kuzmenko, N., Zakharova, V., Neves, J.F., Svec, P., Fischer, U., Ip, W., Bartsch, O., Barış, S., Klein, C., Geha, R., Chou, J., Alosaimi, M., Weintraub, L., Boztug, K., Hirschmugl, T., Vilela, M.M.D.S., Holzinger, D., Seidl, M., Lougaris, V., Plebani, A., Alsina, L., Piquer-Gibert, M., Deyà-Martínez, A., Slade, C.A., Aghamohammadi, A., Abolhassani, H., Hammarström, L., Kuismin, O., Helminen, M., Allen, H.L., Thaventhiran, J.E., Freeman, A.F., Cook, M., Bakhtiar, S., Christiansen, M., Cunningham-Rundles, C., Patel, N.C., Rae, W., Niehues, T., Brauer, N., Syrjänen, J., Seppänen, M.R.J., Burns, S.O., Tuijnenburg, P., Kuijpers, T.W., on behalf of NIHR BioResource, Warnatz, K., Grimbacher, B., and NIHR BioResource NIHR BioResource. (2020). Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations. J. Allergy Clin. Immunol. 146(4): 901–911.

留言 (0)

沒有登入
gif