Table 1: Clinical and immunological findings in 6 patients diagnosed with SCID.

Pt-1Pt-2Pt-3Pt-4Pt-5Pt-6

Diagnosis, genetic defectSCID-RAG2SCID- SCID-RAG2SCID-RAG2CID MHC-II CID MHC-II
Age at diagnosis (months) 5/12 7/12 4/12 3/12 6/12 6/12
Maternal cells 100% 100% 3.5% 2% 0% 0%
Autoimmune features Mild Mild Severe Severe No No
Infections + + + + + +
Lymphocyte count/mm35600 4500 1320 10686 4900 3416
Eosinophil/mm31700 600 2960 4030 500 70
CD3/mm34612 1500 488 2871 3552 1162
CD3+CD4+/mm32855 360 244 2351 543 137
CD3+CD8+/mm31757 1080 224 855 3305 1009
CD19+/mm31 3015 0 0 543 2186
CD3CD56+/mm3504 0 500 3800 490 0
HLADR+ (in total lymph)47% 87% 30% 53% 0% 0%
IGM (IU/mL) UD UD UD 110 UD UD
IGG (IU/mL) 433 UD UD UD 253 UD
IGA (IU/mL) 79 UD UD UD UD UD
IGE (IU/mL) UD UD UD UD UD UD
PHA mitogenic response*3.8% 2.4% 6% 6.5% 46.9% 94.8
aCD3 mitogenic response*1.9% ND 6.7% 31.5% 41.3% 32.8%
TRECs/0.5 mcg DNA UD UD UD UD 2769 4384

UD: undetectable, *percentage, CPM patient/CPM control, : common gamma chain, RAG: recombination activating gene.