TABLE I.
Biological findings characterizing the IPEX patients’ cohort before therapy
| Immunophenotype pre-IS | Median; range (no. Of patients tested) |
|---|---|
| Lymph tot/mmc | 2925; 900-7480 (22) |
| CD3+/mmc | 2047; 600-4838 (23) |
| CD3+CD4+/mmc | 1276; 370-3658 (24) |
| CD3+CD8+/mmc | 586; 210-2020 (23) |
| Ratio CD4:CD8 | 2; 0.5-3.9 (23) |
| CD19+/mmc | 276; 0-1715 (22) |
| CD16+CD56+/mmc | 170; 20-525 (21) |
| CD4+CD25+, % | 9; 0-35 (10) |
| CD4+CD25+CD127low, % | 3; 1-6.6 (5) |
| FOXP3+, % in CD4+CD25+CD127low | 36; 2.2-58 (5) |
| FOXP3+, % in CD4+ | 5; 0.8-7 (4) |
| Immunophenotype pre-HSCT | |
|---|---|
| Lymph tot/mmc | 3350; 440-8189 (39) |
| CD3+/mmc | 2185; 350-9388 (52) |
| CD3+CD4+/mmc | 1311; 150-7824 (52) |
| CD3+CD8+/mmc | 781; 106-2612 (51) |
| Ratio CD4:CD8 | 1.9; 0.3-10.1 (51) |
| CD19+/mmc | 572; 0-6245 (51) |
| CD16+CD56+/mmc | 200; 0-1112 (45) |
| CD4+CD25+, % | 13; 0-49 (18) |
| CD4+CD25+CD127low, % | 7.8; 3.3-20.2 (4) |
| FOXP3+, % in CD4+CD25+CD127low | 50; 1.3-98 (9) |
| FOXP3+, % in CD4+ | 0; 0-5 (3) |
| Gut biopsies before therapy (tot n = 61) | No. of cases |
|---|---|
| Number of sites involved | |
| Single | 26 |
| Multiple | 34 |
| Affected sites | |
| Esophagus | 7 |
| Stomach | 16 |
| Small bowel | 45 |
| Large bowel | 16 |
| All sites | 7 |
| Combinations of affected sites | |
| Small and large bowel | 11 |
| Stomach + small bowel | 9 |
| Stomach + large bowel | 1 |
| Esophagus + stomach | 1 |
| Esophagus + small bowel | 2 |
| Stomach + small and large bowel | 2 |
| Esophagus + stomach + small bowel | 1 |
| Esophagus + small and large bowel | 1 |
| Infiltrating cell type | |
| Eosinophils | 19 |
| Lymphocytes | 32 |
| Plasma cells | 8 |
| Polymorphonucleated cells | 6 |
| Polymorphic infiltrate including all cells | 8 |
| Unspecified inflammatory cell type | 4 |
| Histological lesions | |
| Villous atrophy | 42 |
| Loss of goblet cells | 3 |
| Crypt hyperplasia | 9 |
| Crypt abscesses | 8 |
| Ulcers | 9 |
| Gut biopsies before therapy (tot n = 61) | No. of cases |
|---|---|
| Loss of parietal cells | 2 |
| Metaplasia | 4 |
| Enteropathy-related autoantibodies | No. positive/No. of cases tested |
|---|---|
| Antienterocyte Abs | 25/34 |
| HAA | 13/24 |
| Antienterocyte and HAA | 4/5 |
| VAA | 1/12 |
| Other autoantibodies before therapy | |
|---|---|
| Tot no of patients tested for GAD | 41 |
| GAD among pts with T1D | 15/18 |
| GAD among pts without T1D | 9/23 |
| Tot no. of patients tested for IA | 27 |
| IA among pts with T1D | 9/15 |
| IA among pts without T1D | 0/12 |
| Tot no. of patients tested for IAA | 33 |
| IAA among pts with T1D | 10/13 |
| IAA among pts without T1D | 3/20 |
| Tot no. of patients tested for ZNT8 | 14 |
| ZNT8 among pts with T1D | 1/8 |
| ZNT8 among pts without T1D | 0/6 |
| Tot no. of patients tested for ICA | 6 |
| ICA among pts with T1D | 1/3 |
| ICA among pts without T1D | 3/3 |
GAD, Glutamic acid decarboxylase autoantibodies; HAA, antiharmonin autoantibodies; IA, islet antigen; IAA, anti-insulin autoantibodies; ICA, anti-islet cell antibodies; mmc, mm3; pts, patients; tot, total; VAA, antivillin autoantibodies; ZNT8, zinc transporter 8 autoantibodies.