Tuijnenburg, Paul

Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency. [electronic resource] - Clinical immunology (Orlando, Fla.) 06 2019 - 23-27 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1521-7035

10.1016/j.clim.2019.03.010 doi


Adrenal Insufficiency--congenital
Ankyrin Repeat--genetics
B-Lymphocytes--immunology
Cells, Cultured
Common Variable Immunodeficiency--genetics
Ectodermal Dysplasia
Female
Humans
Immunoglobulin Class Switching--genetics
Immunologic Memory
Immunophenotyping
Lymphocyte Activation
Male
Mutation--genetics
NF-kappa B p52 Subunit--genetics
Pedigree
Receptors, CXCR5--metabolism
T-Lymphocytes--immunology