Table 6.
Patient ID | AO | AD | DD | Gene | Onset sign | OS | ALC cells/μL | CD3+ cells/μL | CD4+ cells/μL | CD8+ cells/μL | CD19+ cells/μL | CD56+ cells/μL | Immunophenotype | Outcome | Cause of deaths |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A1 | 1 | 4 | 3 | Unknown | Chronic diarrhea | - | 1100a | 972a | 720a | 306a | 18a | 616a | TlowB−NK+ | dead | Systemic viral infection |
A2 | 0.5 | 3.5 | 3 | Unknown | Erythroderma | + | 22255 | 9258 | 4206 | 5786 | 89a | 3116 | T+BlowNK+ | dead | OS |
B1 | 2 | 6 | 4 | FOXN1 | Eczema | + | 5392 | 2006 | 1065 | 439 | 3950 | 1442 | T+B+NK+ | dead | Pneumonia |
B2 | 1 | 1 | 0 | FOXN1 | Eczema | + | 2688 | 753a | 645a | 215a | 962 | 650 | TlowB+NK+ | alive | |
C1 | 3 | 8 | 5 | IL2RG | P. Jiroveci pneumonia | - | 5528 | 719a | 55a | 685a | 4765 | NA | TlowB+ | dead | PH |
C2 | 12 | 12 | 0 | IL2RG | Asymptomatic | - | 931a | 19a | 2a | 9a | 847 | 7.4a | T−B+NK− | alive | |
D1 | 3 | 5 | 2 | JAK3 | Chronic diarrhea | - | 1824a | 62a | 40a | 18a | 1621 | 11a | T−B+NK− | alive | |
D2 | 2 | 2 | 0 | JAK3 | Asymptomatic | - | 3926 | 12a | 0a | 1a | 3299 | 10a | T−B+NK− | alive |
< normal age range value; ALC, Absolute Lymphocyte count; NA, not available; OS, Omenn syndrome; PH, pulmonary arterial hypertension.