A novel STAT3 splice-site variant in a kindred with autosomal dominant hyper IgE syndrome

Woellner C., Heropolitańska-Pliszka E., Yeganeh M., Moin M., Español T., Ehl S., Gennery A.R., Abinun M., Breborowicz A., Niehues T., Kilic S.S., Junker A., Turvey S.E., Plebani A., Sánchez B., Garty B-Z., Pignata C., Cancrini C., Litzman J., Sanal O., Baumann U., Bacchetta R., Hsu A.P., Davis J.N., Hammarström L., Davies E.G., Eren E., Arkwright P.D., Moilanen J.S., Viemann D., Khan S., Maródi L., Cant A.J., Freeman A.F., Puck J.M., Holland S.M., and Grimbacher B. 2010. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J. Allergy Clin. Immunol. 125: 424–432.e8.

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