Table 2.
Clinical characteristics for known CSR patients at presentation
| Patient | CD40L #1 | CD40L #2 | AID #1 | AID #2 | UNG |
|---|---|---|---|---|---|
| Year of birth | 1985 | 1980 | 1975 | 1972 | 1994 |
| Gender | Male | Male | Female | Male | Male |
| Age at diagnosis | 3 | 2 | 20 | 6 | 3 |
| Clinical presentation | |||||
| Bronchiectasis | Rec. neutropenia | Vasculitis | Rec. lung infections | Rec. lung infections | |
| Sinusitis | HUS | Rec. breast abces | Bronchiectasis | Rec. Otitis | |
| Cold sores | Meningococcal meningitis | Failure to thrive | |||
| Urticaria | Cutaneous lupus | ||||
| Gene analysis | |||||
| CD40L | c.464T>C, (p. Leu155Pro) | c.435delC | – | – | – |
| UNG | – | – | – | – | c.630_632delCCT |
| AICDA | – | – | c.156+1T>G | c.317T>C (p. L106P) | – |
| Immunoglobulins at presentation (g/L) | |||||
| IgG | 1.5 | <0.1 | <0.1 | <0.1 | <0.1 |
| IgM | 7.5 | 3.5 | 9.0 | ND | 0.5 |
| IgA | <0.22 | <0.1 | <0.1 | ND | <0.1 |
| IgE | <2 | ND | ND | ND | ND |
| B cell subsets at presentation | |||||
| IgD+CD27− (naive) | 92 | ND | ND | ND | 68.6 |
| IgD+CD27+ (non-switched memory) | 7 | ND | ND | ND | 27.4 |
| IgD−CD27+ (switched-memory) | 0 | ND | ND | ND | 2.4 |
| IgD−CD27− (double negative) | 1 | ND | ND | ND | 1.6 |