Table 6.
Clinical and laboratory phenotype of human BCL10 deficiency (LOF BCL10 mutations).
| Mutation | g.85741978C>T;IVS1+1G>A |
|---|---|
| Age | 6 months |
| Sex | M |
| Ethnicity | Amerindian |
| Consanguinity | + |
| Functional Impact | Loss |
| Inheritance | AR |
| Gene Expression | None |
| Protein Expression | None |
| INFECTIONS | |
| Pulmonary | + |
| Influenza A + B | + |
| RSV | + |
| Adenovirus | + |
| Gastrointestinal | + |
| Campylobacter jejuni | + |
| Clostridium difficile | + |
| Adenovirus | + |
| Oral | + |
| Candida albicans | + |
| CLINICAL MANIFESTATIONS | |
| Failure to thrive | – |
| Dysmorphic facies | – |
| Periodontal disease | – |
| Eczema | – |
| Enteropathy | + |
| Bronchiectasis | – |
| THERAPY | |
| Transplantation | – |
| Successful | N/A |
| IVIG | + |
| Anti-inflammatory | |
| Mesalazine | + |
| Antibiotics | + |
| Vancomycin | + |
| Metronidazole | + |
| Other | Levetiracetam |
| Outcome | Death |
| Cause of death | Respiratory failure |
| LYMPHOCYTES | |
| Total CD19 B cells | ↑ |
| Naive | ↑ |
| (Class-switched) memory | ↓ |
| Total CD3 T cells | ↑ |
| CD4 | ↑ |
| CD4 Naïve | ↑ |
| CD4 CM | ↓ |
| CD4 EM | Normal |
| CD8 | Normal |
| CD8 Naïve | ↑ |
| CD8 CM | ↓ |
| CD8 EM | Normal |
| Treg | ↓ |
| PROLIFERATION | |
| PHA | Normal |
| ConA | Normal |
| PWM | Normal |
| CD3+CD28 | ↓ |
| IMMUNOGLOBULINS | |
| IgG | ↓ |
| IgA | ↓ |
| IgM | ↓ |
| IgE | Normal |
| Reference | (20) |
Main clinical and immune findings of the single BCL10-deficient patient described to date. ↑, increased levels relative to normal range; ↓, decreased levels relative to normal range; +, present; −, absent; RSV, respiratory syncytial virus; CM, central memory; EM, effector memory.