Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency. [electronic resource]
Producer: 20200402Description: 23-27 p. digitalISSN:- 1521-7035
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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