TABLE 1.
Patient characteristics.
| Subject | Age/Sex | Identified Fas Mutation | Diagnosis | % DN | LAD | Splenomeg. | IgG (mg/dL) | Autoimmune Manifestations | Therapy |
|---|---|---|---|---|---|---|---|---|---|
| NC1 | 40/F | none | helathy volunteer | <1% | - | - | - | - | none |
| NC2 | 47/M | none | helathy volunteer | <1% | - | - | - | - | none |
| Pt1 | 10/M | 942C->T, p.R234 stop (exon 9) | ALPS-FAS | 8% | ++ | + | 1300–1910 | Autoimmune cytopenia | MMF |
| Pt2 | 10/M | 952G->T, p.G237V (exon 9) | ALPS-FAS | 16% | +++ | asplenic | 2540–3600 | Autoimmune cytopenia | MMF |
| Pt3 | 11/F | 952G->T, p.G237V (exon 9) | ALPS-FAS | 7% | ++ | + | 507–1270 | No cytopenia | none |
| Pt4 | 12/M | 430del AAG, p.E63fs (exon 3) | ALPS-FAS | 10% | +++ | + | 300–1000 | Autoimmune cytopenia | MMF |
| Pt5 | 4/M | 383T->A, p.C47X (exon 2) | ALPS-FAS | 8% | ++++ | + | 2230–2520 | Autoimmune cytopenia, Guillain-Barré | none |
“% DN” denotes percent DN T cells among PBMCs. “LAD” denotes grades of lymphadenopathy:
+
= shotty nodes
++
= multiple nodes up to 2cm
+++
= many nodes >2cm
++++
= visible lymphadenopathy.
“% IgG” denotes serum IgG concentration. “Therapy” denotes chronic immunosuppressive regimen. “fs” denotes frameshift mutation. Pt1, Pt2, and Pt3 have previously been referred to in publication as NIH 080.8, NIH 128.1, and NIH 128.4, respectively.