Table 8.
“Red flags” suggestive of human MALT1 deficiency.
| Clinical features | Proportion | Penetrance (%) |
|---|---|---|
| INFECTIONS (BACTERIAL/VIRAL/FUNGAL) | ||
| Pulmonary | 6/6 | 100 |
| Skin | 3/6 | 50 |
| Gastrointestinal tract | 3/6 | 50 |
| ORGAN INVOLVEMENT | ||
| Periodontal disease | 6/6 | 100 |
| Gastrointestinal inflammation | 5/6 | 83 |
| Dermatitis | 4/6 | 67 |
| DEVELOPMENT | ||
| Failure to thrive | 5/6 | 83 |
| Abnormal Facies | 3/6 | 50 |
| LABORATORY TESTS | ||
| Cell populations | ||
| Normal lymphocytes numbers | 3/4 | 75 |
| ↓ Treg | 3/4 | 75 |
| Normal B cells | 4/6 | 67 |
| ↑ CD3+, CD4+ T cells | 4/6 | 67 |
| ↑ CD8+ T cells | 3/5 | 60 |
| Response | ||
| ↓ T cell proliferation (PHA, α-CD3/CD28) | 6/6 | 100 |
| ↓ NF-κB phosphorylation/IκBα degradation | 6/6 | 100 |
| ↓ IL-2 secretion | 6/6 | 100 |
| Ig | ||
| ↓ specific antibodies | 3/4 | 75 |
| ↓ IgM | 3/6 | 50 |
| ↑ IgE | 3/6 | 50 |
Common features found in MALT1-deficient patients. Included are proportion of patients where data is available and the percentage of patients with that finding. ↑, increased levels relative to normal range; ↓, decreased levels relative to normal range.