Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Article

Abstract: Background: An increasing number of NFKB1 variants are being identified in patients with heterogeneo

Palabras claves:

Autosomal dominant, common variable immunodeficiency, NF-κB1-related phenotype, NFKB1 mutation, NFKB1 variant, reduced penetrance

Autores:

Abolhassani H., Adhya Z., Aghamohammadi A., Alachkar H., Allen H.L., Allende L.M., Alosaimi M., Alsina L., Ameratunga R., Anantharachagan A., Antrobus R., Arumugakani G., Ashford S., Astle W.J., Atschekzei F., Attwood A., Bacchelli C., Bakhtiar S., Barış S., Bartsch O., Batista J., Baxendale H.E., Bethune C., Bibi S., Bleda M., Boardman B., Booth C., Boztug K., Bradley J.R., Brauer N., Breen G., Brown M., Browning M.J., Brownlie M., Buckland M.S., Bulashevska A., Burns S.O., Burren O.S., Camacho-Ordonez N., Carss K., Chambers J., Chandra A., Chou J., Christiansen M., Cook M., Cunningham-Rundles C., de Vries E., Deyà-Martínez A., Dos Santos Vilela M.M., Fischer U., Fliegauf M., Frede N., Freeman A.F., Geha R., Gonzalez-Granado L.I., Grimbacher B., Hammarström L., Hautala T., Helminen M., Hirschmugl T., Holzinger D., Ip W., Kinnunen M., Klammer N., Klein C., Kobbe R., Kuijpers T.W., Kuismin O., Kuzmenko N., Lorenzini T., Lougaris V., Luis Alberto Pedroza, Martínez-Gallo M., Neves J.F., Niehues T., Patel N.C., Piquer-Gibert M., Plebani A., Proietti M., Rae W., Roifman C.M., Schejter Y.D., Schmidt R.E., Schröder C., Seidl M., Seppänen M.R.J., Shadur B., Shcherbina A., Slade C.A., Stepensky P., Svec P., Syrjänen J., Thaventhiran J.E.D., Tuijnenburg P., van der Flier M., van der Meer J.W.M., Varjosalo M., Warnatz K., Weintraub L., Zakharova V.

Fuentes:

scopus