Clinical and immunologic findings at diagnosis in 15 ADA-deficient patients
| UPN . | Sex . | Age . | Clinical presentation/infection . | T cells/mm3 . | B cells/mm3 . | NK cells/mm3 . | Eos/mm3 . | IgG, g/L . | IgA, g/L . | IgM, gL . |
|---|---|---|---|---|---|---|---|---|---|---|
| U466 | m | 1 mo | Pneumonia (RSV), diarrhea | 7 | 3 | 102 | 420 | 4.8 | ND | ND |
| U396 | m | 3 mo | Pneumonia (RSV), mechanical ventilation | 5 | 0 | 9 | 120 | 3.7 | ND | ND |
| U301 | f | 2 wk | Pneumonia (RSV) | 17 | 85 | 79 | 1500 | 2.1 | ND | ND |
| U175 | m | 2 mo | Diarrhea, FTT | 0 | 60 | 30 | 1300 | 1.8 | ND | ND |
| U118 | f | 2 mo | Lymphadenopathy after BCG-vaccination | 0 | 0 | Not done | 40 | 1.4 | 0.1 | 0.4 |
| M1052 | f | 4 mo | Recurrent pyodermia, FTT | 20 | 50 | 125 | 150 | 0.9 | ND | 0.05 |
| M1053 | f | 4 mo | Diarrhea, FTT | 4 | 8 | 135 | 105 | 0.9 | ND | 0.05 |
| U442 | m | 3 mo | Diarrhea, FTT | 70 | 6 | 40 | 1000 | 5.4 | 0.25 | 0.21 |
| U457 | f | 12 mo | Bronchitis, autoimmune thyroiditis | 690 | 4 | 50 | 650 | 17.0 | 0.43 | 0.36 |
| U444 | f | Birth | None | 0 | 0 | 12 | 250 | 6.9 | ND | 0.07 |
| U322 | m | 2 wk | Pneumonia, mechanical ventilation, FTT | 0 | 0 | 0 | 820 | 3.4 | ND | ND |
| U66 | f | Birth | UTI, PCP | 8 | 0 | 10 | 1500 | 4.6 | ND | ND |
| U51 | f | 2 wk | Lymphadenopathy after BCG-vaccination, pneumonia, FTT | 200 | 55 | Not done | 1350 | 2.7 | ND | ND |
| U36 | f | 1 mo | Pneumonia, diarrhea, FTT | 0 | 200 | Not done | 750 | 4.4 | ND | ND |
| U26 | m | 1 mo | Lymphadenopathy after BCG-vaccination, pneumonia, sepsis/meningitis, diarrhea | 65 | 70 | Not done | 170 | 8.0 | ND | ND |
| UPN . | Sex . | Age . | Clinical presentation/infection . | T cells/mm3 . | B cells/mm3 . | NK cells/mm3 . | Eos/mm3 . | IgG, g/L . | IgA, g/L . | IgM, gL . |
|---|---|---|---|---|---|---|---|---|---|---|
| U466 | m | 1 mo | Pneumonia (RSV), diarrhea | 7 | 3 | 102 | 420 | 4.8 | ND | ND |
| U396 | m | 3 mo | Pneumonia (RSV), mechanical ventilation | 5 | 0 | 9 | 120 | 3.7 | ND | ND |
| U301 | f | 2 wk | Pneumonia (RSV) | 17 | 85 | 79 | 1500 | 2.1 | ND | ND |
| U175 | m | 2 mo | Diarrhea, FTT | 0 | 60 | 30 | 1300 | 1.8 | ND | ND |
| U118 | f | 2 mo | Lymphadenopathy after BCG-vaccination | 0 | 0 | Not done | 40 | 1.4 | 0.1 | 0.4 |
| M1052 | f | 4 mo | Recurrent pyodermia, FTT | 20 | 50 | 125 | 150 | 0.9 | ND | 0.05 |
| M1053 | f | 4 mo | Diarrhea, FTT | 4 | 8 | 135 | 105 | 0.9 | ND | 0.05 |
| U442 | m | 3 mo | Diarrhea, FTT | 70 | 6 | 40 | 1000 | 5.4 | 0.25 | 0.21 |
| U457 | f | 12 mo | Bronchitis, autoimmune thyroiditis | 690 | 4 | 50 | 650 | 17.0 | 0.43 | 0.36 |
| U444 | f | Birth | None | 0 | 0 | 12 | 250 | 6.9 | ND | 0.07 |
| U322 | m | 2 wk | Pneumonia, mechanical ventilation, FTT | 0 | 0 | 0 | 820 | 3.4 | ND | ND |
| U66 | f | Birth | UTI, PCP | 8 | 0 | 10 | 1500 | 4.6 | ND | ND |
| U51 | f | 2 wk | Lymphadenopathy after BCG-vaccination, pneumonia, FTT | 200 | 55 | Not done | 1350 | 2.7 | ND | ND |
| U36 | f | 1 mo | Pneumonia, diarrhea, FTT | 0 | 200 | Not done | 750 | 4.4 | ND | ND |
| U26 | m | 1 mo | Lymphadenopathy after BCG-vaccination, pneumonia, sepsis/meningitis, diarrhea | 65 | 70 | Not done | 170 | 8.0 | ND | ND |
IgG levels are given before substitution.
Eos indicates eosinophilic granulocytes; U proceeding UPN numbers indicates patients treated in Ulm, M patients treated in Munich; m, male; f, female; RSV, respiratory syncytial virus; ND, not detectable; FTT, failure to thrive; BCG, Bacille Calmette Guérin; UTI, urinary tract infection; PCP, Pneumocystis jirovecii pneumonia.