A novel, heterozygous three base-pair deletion in CARD11 results in B cell expansion with NF-κB and T cell anergy disease
Germline gain-of-function mutations in CARD11 lead to the primary immunodeficiency, B cell expansion with NF-κB, and T cell anergy (BENTA). Herein, we report the case of a girl, presenting at 2 years of age with lymphocytosis and splenomegaly in whom a novel, in-frame, three base pair deletion in CA...
| Egile Nagusiak: | , , , , , |
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| Formatua: | Journal article |
| Hizkuntza: | English |
| Argitaratua: |
Springer nature
2020
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