Table 5.
Clinical and biological phenotypes of IRAK-4, MyD88, NEMO, and IκBα deficiencies
| Phenotype | Presence of phenotype for deficiencyb |
|||
|---|---|---|---|---|
| IRAK-4 | MyD88 | NEMO | IκBα | |
| Pyogenic bacterial infection | + | + | + | + |
| Severe viral infection | − | + | ||
| Environmental mycobacterial infection | +/− | − | + | − |
| Opportunistic infections | − | − | + | + |
| EDA | − | − | + or −a | + |
| Colitis | − | − | + | + |
| Hypogammaglobulinemia | − | − | + | + |
| Specific protidic antibody defect | − | − | + | + |
| Specific polysaccharide antibody defect | +/− | ND | + | + |
| Low T-cell proliferation in response to anti-CD3 | − | +/− | + | |
| No IL-6 production by whole blood after activation with IL-1 or TLR agonists (except TLR3) | + | + | +/− | + |
| No IL-10 production by whole blood after activation with TNF-α | − | − | + | + |
a
Ten percent of NEMO-deficient patient have no EDA phenotype.
b
−, absent; +, present, +/−, present in some patients.