Overview of HLH-associated sequence variants found in adults in selected registries
| Reference . | Mutation frequency . | PRF1 bi/mo . | STXBP2 bi/mo . | SH2D1A hemi/mo . | UNC13D bi/mo . | STX11 bi/mo . | Age (range), y . |
|---|---|---|---|---|---|---|---|
| Zhang et al52 | 14% | 7/11* | 1/1* | 0/0 | 2/5* | 0/0 | ≥18, n = 25 |
| Sieni et al125 | n/a | 6/0 | 1/0 | 2 (m)/0 | 2/0 | 0/0 | 23 (18-43), n = 11 |
| Wang et al41 | 7% | 6/3* | 0/0 | 1 (m)*/1 (f) | 0/1 | 0/7 | 20 (13-56), n = 18 |
| Cetica et al51 †,‡ | 25% | — | — | — | — | — | ≥18, n = 44 |
| Chen et al126 † | 32% | 1/2* | 0/1 | 0 | 1*/2 | 0 | ≥18, n = 22 |
| Reference . | Mutation frequency . | PRF1 bi/mo . | STXBP2 bi/mo . | SH2D1A hemi/mo . | UNC13D bi/mo . | STX11 bi/mo . | Age (range), y . |
|---|---|---|---|---|---|---|---|
| Zhang et al52 | 14% | 7/11* | 1/1* | 0/0 | 2/5* | 0/0 | ≥18, n = 25 |
| Sieni et al125 | n/a | 6/0 | 1/0 | 2 (m)/0 | 2/0 | 0/0 | 23 (18-43), n = 11 |
| Wang et al41 | 7% | 6/3* | 0/0 | 1 (m)*/1 (f) | 0/1 | 0/7 | 20 (13-56), n = 18 |
| Cetica et al51 †,‡ | 25% | — | — | — | — | — | ≥18, n = 44 |
| Chen et al126 † | 32% | 1/2* | 0/1 | 0 | 1*/2 | 0 | ≥18, n = 22 |
bi, biallelic mutation; f, female; hemi, hemizygous mutation; m, male; mo, monoallelic mutation.
Some are double-heterozygous patients, with mutations in 2 different genes.
The study included all age groups.
Only biallelic variations reported. Specific mutant site not reported for patients ≥18 years.