Table 5.
“Red flags” suggestive of BENTA disease (GOF CARD11 mutations).
| Clinical features | Proportion | Penetrance (%) |
|---|---|---|
| Splenomegaly in childhood | 14/14 | 100 |
| INFECTIONS | ||
| Otitis media/sinopulmonary | 21/21 | 100 |
| EBV | 9/21 | 43 |
| Molluscum contagiosium | 8/22 | 36 |
| LABORATORY TESTS | ||
| Cell populations | ||
| B cell lymphocytosis | 21/21 | 100 |
| ↑ % Naïve mature B (IgM+ IgD+) | 21/21 | 100 |
| ↑ % Immature/transitional B (CD10+) | 21/21 | 100 |
| ↓ % Class-switched and memory B | 21/21 | 100 |
| Normal T cells (abs #) | 21/21 | 100 |
| ↑ % DN T cells | 6/10 | 60 |
| Autoantibodies | 5/21 | 23 |
| Autoimmune hemolytic anemia | 4/21 | 19 |
| IN VITRO RESPONSES | ||
| Naïve B cells | ||
| Normal proliferation | 7/7 | 100 |
| ↓ Plasma cell differentiation | 7/7 | 100 |
| ↓ IgG secretion | 7/7 | 100 |
| T cells | ||
| ↓ Proliferation (α-CD3/CD28) | 7/7 | 100 |
| ↓ IL-2 secretion (α-CD3/CD28, mitogens) | 7/7 | 100 |
Summary of major clinical and immunological phenotypes associated with human germline GOF mutations in CARD11 causing B cell Expansion with NF-κB and T-cell Anergy (BENTA) disease. Proportion of patients and penetrance is calculated based on number of patients tested with available data. Clinical “red flags” for potential diagnosis of BENTA disease are marked in blue. GOF CARD11 mutations are bolded. ↑, increased levels relative to normal range; ↓, decreased levels relative to normal range.