Clinical and laboratory findings of ALPS patients harboring novel genetic variations
| Patient n . | Sex . | Age . | Gene . | HGVS RNA . | HGVS amino acid change . | Zygosity . | ACMG . | Lymphoproliferation . | Cytopenias . | Apoptosis assay . | DNTs, % . | sFASL, pg/mL . | IgG, g/L . | IL-10, pg/mL . | IL-18, pg/mL . | B12, pg/mL . | Fullfilled criteria (major + minor)* . | ALPS classification . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 39 | M | 3 y | FAS | c.76C>T | p.Gln26Ter | Het | Pathogenic | Yes | A, N | 3.5 | 7.5 | >1000 | 18.5 | NA | 2853 | NA | 2 + 4 | Definite ALPS |
| 107 | F | 11 mo | FAS | c.715_721 del | p.Val239HisfsTer2 | Het | Pathogenic | Yes | T, A, N | 0.4 | 8.9 | >1000 | 38.7 | NA | NA | 1406 | 3 + 3 | Definite ALPS |
| 49 | F | 14 y | FAS | c.719_722delinsAGTTA | p.Met240LysfsTer7 | Het | Pathogenic | Yes | A | 1.0 | 11.0 | >1000 | NA | 119 | 1229 | NA | 3 + 3 | Definite ALPS |
| 26 | F | 49 y | FAS | c.742T>G | p.Phe248Val | Het | Likely pathogenic | NA | NA | 1.4 | 5.5 | 129 | NA | NA | 265 | NA | 2 + 0 | Definite ALPS |
| 28 | F | 77 y | FAS | c.742T>G | p.Phe248Val | Het | Likely pathogenic | Yes | NA | 1.7 | 10.5 | 131 | NA | 20 | 446 | NA | 3 + 0 | Definite ALPS |
| 44 | M | 4 y | FAS | c.742T>G | p.Phe248Val | Het | Likely pathogenic | Yes | A | 1.5 | 5.7 | 1000 | 15.4 | NA | 1380 | NA | 3 + 2 | Definite ALPS |
| 30 | M | 15 y | FAS | c.794A>G | p.Asp265Gly | Het | Likely pathogenic | Yes | T, A, N | 1.4 | 23.0 | NA | 4.7 | NA | NA | NA | 3 + 1 | Definite ALPS |
| 199 | M | 6 mo | FAS | c.826C>A | p.Gln276Lys | Het | Likely pathogenic | Yes | NA | 1.4 | NA | 312 | NA | NA | NA | NA | 2 + 1 | Definite ALPS |
| 200 | F | 6 y | FAS | c.826C>A | p.Gln276Lys | Het | Likely pathogenic | Yes | NA | NA | NA | 939 | NA | NA | NA | NA | 1 + 1 | Suspected ALPS |
| 47 | M | 7 y | FAS | c.335-9_335-6delATTT | Intronic | Het | VUS | Yes | A | 2.8 | 13.0 | 1000 | 24.9 | NA | NA | NA | 3 + 2 | Definite ALPS |
| 89 | F | 2 y | FAS | c.136A>C | p.Thr46Pro | Het | VUS | Yes | A | 9.9 | 1.3 | 178 | 9.6 | NA | NA | NA | 1 + 0 | Unlikely ALPS |
| 91 | F | 12 mo | CASP10 | c.295A>G | p.Lys99Glu | Het | Likely benign | Yes | A | 3.0 | 3.6 | 169 | 9.0 | NA | NA | 899 | 3 + 0 | Definite ALPS |
| Patient n . | Sex . | Age . | Gene . | HGVS RNA . | HGVS amino acid change . | Zygosity . | ACMG . | Lymphoproliferation . | Cytopenias . | Apoptosis assay . | DNTs, % . | sFASL, pg/mL . | IgG, g/L . | IL-10, pg/mL . | IL-18, pg/mL . | B12, pg/mL . | Fullfilled criteria (major + minor)* . | ALPS classification . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 39 | M | 3 y | FAS | c.76C>T | p.Gln26Ter | Het | Pathogenic | Yes | A, N | 3.5 | 7.5 | >1000 | 18.5 | NA | 2853 | NA | 2 + 4 | Definite ALPS |
| 107 | F | 11 mo | FAS | c.715_721 del | p.Val239HisfsTer2 | Het | Pathogenic | Yes | T, A, N | 0.4 | 8.9 | >1000 | 38.7 | NA | NA | 1406 | 3 + 3 | Definite ALPS |
| 49 | F | 14 y | FAS | c.719_722delinsAGTTA | p.Met240LysfsTer7 | Het | Pathogenic | Yes | A | 1.0 | 11.0 | >1000 | NA | 119 | 1229 | NA | 3 + 3 | Definite ALPS |
| 26 | F | 49 y | FAS | c.742T>G | p.Phe248Val | Het | Likely pathogenic | NA | NA | 1.4 | 5.5 | 129 | NA | NA | 265 | NA | 2 + 0 | Definite ALPS |
| 28 | F | 77 y | FAS | c.742T>G | p.Phe248Val | Het | Likely pathogenic | Yes | NA | 1.7 | 10.5 | 131 | NA | 20 | 446 | NA | 3 + 0 | Definite ALPS |
| 44 | M | 4 y | FAS | c.742T>G | p.Phe248Val | Het | Likely pathogenic | Yes | A | 1.5 | 5.7 | 1000 | 15.4 | NA | 1380 | NA | 3 + 2 | Definite ALPS |
| 30 | M | 15 y | FAS | c.794A>G | p.Asp265Gly | Het | Likely pathogenic | Yes | T, A, N | 1.4 | 23.0 | NA | 4.7 | NA | NA | NA | 3 + 1 | Definite ALPS |
| 199 | M | 6 mo | FAS | c.826C>A | p.Gln276Lys | Het | Likely pathogenic | Yes | NA | 1.4 | NA | 312 | NA | NA | NA | NA | 2 + 1 | Definite ALPS |
| 200 | F | 6 y | FAS | c.826C>A | p.Gln276Lys | Het | Likely pathogenic | Yes | NA | NA | NA | 939 | NA | NA | NA | NA | 1 + 1 | Suspected ALPS |
| 47 | M | 7 y | FAS | c.335-9_335-6delATTT | Intronic | Het | VUS | Yes | A | 2.8 | 13.0 | 1000 | 24.9 | NA | NA | NA | 3 + 2 | Definite ALPS |
| 89 | F | 2 y | FAS | c.136A>C | p.Thr46Pro | Het | VUS | Yes | A | 9.9 | 1.3 | 178 | 9.6 | NA | NA | NA | 1 + 0 | Unlikely ALPS |
| 91 | F | 12 mo | CASP10 | c.295A>G | p.Lys99Glu | Het | Likely benign | Yes | A | 3.0 | 3.6 | 169 | 9.0 | NA | NA | 899 | 3 + 0 | Definite ALPS |
A, anemia; Het, heterozygous; N, neutropenia; NA, not applicable; T, thrombocytopenia.
Fulfilled criteria (major + minor) are shown without the inclusion of genetic mutation as a major criterion.