Clinical and laboratory findings of ALPS-U patients with genetic mutations
| 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 . | ALPS classification . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 95 | F | 10 mo | IKBKG | c.549G>C | p.Gln183His | Homo | Likely pathogenic | Yes | A | 2.7 | 2.1 | NA | 14.3 | NA | NA | NA | Definite ALPS |
| ORAI1 | c.144_150dup | p.Thr53ArgfsTer39 | Het | Uncertain significance | |||||||||||||
| 2 | F | 14 y | MYO5B | c.154A>G | p.Ile52Val | NA | Uncertain significance | Yes | T, A, N | 2.1 | 1.8 | 146.9 | NA | 28.8 | 436.4 | NA | Definite ALPS |
| 42 | F | 4 y | PRF1 | c.539+83C>T | Intronic | Het | Uncertain significance | Yes | A | 1.7 | 5.1 | >1000 | 15.3 | NA | 3238 | NA | Definite ALPS |
| c.272C>T | p.Ala91Val | Het | Uncertain significance | ||||||||||||||
| 45 | M | 24 y | PRF1 | c.755A>G | p.Asn252Ser | NA | Uncertain significance | Yes | NA | 1.6 | NA | 297.4 | NA | 74.2 | 2269.8 | NA | Definite ALPS |
| 36 | F | 18 mo | PRF1 | c.948C>A | p.Phe316Leu | NA | Likely pathogenic | Yes | T, A, N | 2.9 | 2.9 | 486 | 11.05 | 82 | 1931 | >1000 | Definite ALPS |
| 38 | F | 15 y | RAG1 | c.2290C>T | p.Arg764Cys | Homo | Likely pathogenic | Yes | T, A, N | NA | 5.5 | 391.8 | NA | 118.3 | 2189.6 | NA | Definite ALPS |
| 1 | M | 9 y | STAT3 | c.2144C>T | p.Pro715Leu | NA | Pathogenic | Yes | T, N | 2.3 | 2.7 | 175 | NA | 38 | 455 | NA | Suspected ALPS |
| 105 | F | 16 mo | STAT3 | c.2144C>T | p.Pro715Leu | NA | Pathogenic | Yes | A, N | 9.4 | 2.6 | 154 | 14.1 | NA | NA | 549 | Suspected ALPS |
| 119 | M | 14 y | TNFRSF13B | c.310T>C | p.Cys104Arg | NA | Uncertain significance | Yes | T, A, N | 4.6 | 2.3 | 48 | 4.63 | NA | NA | NA | Suspected ALPS |
| 62 | M | 4 y | TNFRSF13B | c.310T>C | p.Cys104Arg | Het | Uncertain significance | Yes | A, N | 6.8 | 2 | 181 | 5.77 | NA | NA | NA | Suspected 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 . | ALPS classification . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 95 | F | 10 mo | IKBKG | c.549G>C | p.Gln183His | Homo | Likely pathogenic | Yes | A | 2.7 | 2.1 | NA | 14.3 | NA | NA | NA | Definite ALPS |
| ORAI1 | c.144_150dup | p.Thr53ArgfsTer39 | Het | Uncertain significance | |||||||||||||
| 2 | F | 14 y | MYO5B | c.154A>G | p.Ile52Val | NA | Uncertain significance | Yes | T, A, N | 2.1 | 1.8 | 146.9 | NA | 28.8 | 436.4 | NA | Definite ALPS |
| 42 | F | 4 y | PRF1 | c.539+83C>T | Intronic | Het | Uncertain significance | Yes | A | 1.7 | 5.1 | >1000 | 15.3 | NA | 3238 | NA | Definite ALPS |
| c.272C>T | p.Ala91Val | Het | Uncertain significance | ||||||||||||||
| 45 | M | 24 y | PRF1 | c.755A>G | p.Asn252Ser | NA | Uncertain significance | Yes | NA | 1.6 | NA | 297.4 | NA | 74.2 | 2269.8 | NA | Definite ALPS |
| 36 | F | 18 mo | PRF1 | c.948C>A | p.Phe316Leu | NA | Likely pathogenic | Yes | T, A, N | 2.9 | 2.9 | 486 | 11.05 | 82 | 1931 | >1000 | Definite ALPS |
| 38 | F | 15 y | RAG1 | c.2290C>T | p.Arg764Cys | Homo | Likely pathogenic | Yes | T, A, N | NA | 5.5 | 391.8 | NA | 118.3 | 2189.6 | NA | Definite ALPS |
| 1 | M | 9 y | STAT3 | c.2144C>T | p.Pro715Leu | NA | Pathogenic | Yes | T, N | 2.3 | 2.7 | 175 | NA | 38 | 455 | NA | Suspected ALPS |
| 105 | F | 16 mo | STAT3 | c.2144C>T | p.Pro715Leu | NA | Pathogenic | Yes | A, N | 9.4 | 2.6 | 154 | 14.1 | NA | NA | 549 | Suspected ALPS |
| 119 | M | 14 y | TNFRSF13B | c.310T>C | p.Cys104Arg | NA | Uncertain significance | Yes | T, A, N | 4.6 | 2.3 | 48 | 4.63 | NA | NA | NA | Suspected ALPS |
| 62 | M | 4 y | TNFRSF13B | c.310T>C | p.Cys104Arg | Het | Uncertain significance | Yes | A, N | 6.8 | 2 | 181 | 5.77 | NA | NA | NA | Suspected ALPS |
A, anemia; Het, heterozygous; Homo, homozygous; N, neutropenia; NA, not applicable; T, thrombocytopenia.