Patients and transplant characteristics
| Patient . | HSCT year . | STAT1 variant (protein) . | STAT1 mutation protein domain . | Donor (match) . | Graft source . | Conditioning group . | Conditioning agents . | Previously reported (reference) . |
|---|---|---|---|---|---|---|---|---|
| 1* | 2019 | E353K | DBD | MSD | BM | MAC | ATG; BU iv 14 mg/kg; Flu 160 mg/m2 | |
| 2 | 2019 | V653I | SH2D | MUD (10/10) | BM | MAC | ATG; Treo 42 g/m2; Flu 150 mg/m2; TT 8 mg/kg | (24) |
| 3* HSCT 1 | 2021 | K388E | DBD | MUD (10/10) | BM | MAC | Alemtuzumab; Treo 42 g/m2; Flu 150 mg/m2; TT 8 mg/kg | (7) |
| 3 HSCT 2 | 2023 | K388E | DBD | MUD (10/10; 12/12) | BM | MAC | Alemtuzumab; BU iv (target AUC 90 mg*h/l); Flu 160 mg/m2 | |
| 4* | 2023 | R274W | CCD | MUD (10/10; 12/12) | BM | MAC | Alemtuzumab; Treo 42 g/m2; Flu 150 mg/m2; TT 8 mg/kg | |
| 5 | 2021 | P293L | CCD | MUD (10/10) | BM | MAC | ATG; Treo 42 g/m2; Flu 160 mg/m2; TT 10 mg/kg | |
| 6 | 2020 | T385M | DBD | MUD (9/10) | BM | MAC | ATG; Treo 42 g/m2; Flu 160 mg/m2; TT 10 mg/kg | |
| 7* | 2015 | S466R | DBD | MUD (10/10; 11/12) | PBSC | Myeloablative, reduced intensity | Alemtuzumab; Treo 42 g/m2; Flu 150 mg/m2 | (18) |
| 8* | 2018 | L283S | CCD | MUD (10/10; 11/12) | PBSC | Myeloablative, reduced intensity | Alemtuzumab; Treo 42 g/m2; Flu 150 mg/m2 | (25) |
| 9* | 2018 | E705Q | TAD | MUD (10/10; 12/12) | PBSC | Myeloablative, reduced intensity | Alemtuzumab; Treo 42 g/m2; Flu 150 mg/m2 | (15) |
| 10 HSCT 1 | 2014 | T385M | DBD | MUD (10/10) | PBSC; αß-T cell depletion | Myeloablative, reduced intensity | ATG; Treo 42 g/m2; Flu 150 mg/m2; rituximab 375 mg/m2 | (18) |
| 10 HSCT 2 | 2014 | | | ORD (5/10) | PBSC; αß-T cell depletion | MAC | ATG; CY 120 mg/kg; Flu 150 mg/m2; melphalan 140 mg/m2; rituximab 100 mg/m2 | |
| 11* | 2018 | K388R | DBD | ORD (6/10) | PBSC(T-αß depletion) | MAC | ATG; Treo 42 g/m2; Flu 150 mg/m2; TT 10 mg/kg; rituximab 100 mg/m2 | |
| 12 | 2022 | T385M | DBD | MSD | PBSC | MAC | Alemtuzumab; Treo 42 g/m2; Flu 180 mg/m2; TT 10 mg/kg | |
| 13* | 2020 | R274Q | CCD | MUD (10/10) | PBSC | MAC | Alemtuzumab; Treo 42 g/m2; Flu 150 mg/m2; TT 10 mg/kg | |
| 14* | 2021 | R274Q | CCD | MUD (10/10) | BM | MAC | Alemtuzumab; Treo 42 g/m2; Flu 150 mg/m2; TT 10 mg/kg | |
| 15 | 2021 | I294T | CCD | MUD (9/10) | BM | Myeloablative, reduced intensity | ATG; Treo 42 g/m2; Flu 150 mg/m2 | |
| 16* HSCT 1 | 2021 | T288P | CCD | MUD (9/10) | BM plus CD34+-selected PBSC | MAC | ATG; BU iv (target AUC 70 mg*h/l); Flu 160 mg/m2; TT 5 mg/kg | (6, 7) |
| 16 HSCT 2 | 2021 | | | ORD (5/10) | PBSC | Non-myeloablative | Alemtuzumab; CY 29 mg/kg; Flu 150 mg/m2; rituximab 375 mg/m2 | |
| 17* | 2017 | K344E | DBD | MSD | BM | MAC | Alemtuzumab; BU iv 12.8 mg/kg; Flu 180 mg/m2 | (6, 7) |
| 18* | 2020 | L206P | CCD | MUD (9/10) | PBSC | MAC | ATG; Treo 42 g/m2; Flu 150 mg/m2; TT 10 mg/kg | |
| 19* | 2019 | T385M | DBD | MUD (10/10) | BM | MAC | ATG; Treo 42 g/m2; Flu 150 mg/m2; TT 10 mg/kg | (16) |
| 20 | 2016 | T385M | DBD | MSD | CB | Myeloablative, reduced intensity | ATG; Treo 42 g/m2; Flu 160 mg/m2 | (19) |
| 21 | 2015 | C324F | DBD | MUD (10/10) | BM | Myeloablative, reduced intensity | ATG; Treo 42 g/m2; Flu 150 mg/m2 | (19) |
| 22 | 2022 | R210K | CCD | ORD (5/10) | BM | MAC | ATG; BU iv (target AUC 90 mg*h/l); Flu 160 mg/m2; emapalumab 12 mg/kg | (20) |
| 23* | 2021 | T419R | DBD | MSD | BM | MAC | ATG; melphalan 140 mg/m2; Flu 150 mg/m2; TT 10 mg/kg | (7) |
| 24* | 2021 | T385M | DBD | MUD (10/10) | BM | Non-myeloablative | ATG; melphalan 140 mg/m2; Flu 160 mg/m2; TT 10 mg/kg; rituximab 375 mg/m2 | |
| 25* | 2018 | T385M | DBD | MUD (9/10) | PBSC | Non-myeloablative | ATG; melphalan 140 mg/m2; Flu 160 mg/m2; TT 10 mg/kg; rituximab 375 mg/m2 | |
| 26 | 2022 | R210K | CCD | MSD | BM | Myeloablative, reduced intensity | ATG; BU iv 71.75 mg*h/l; Flu 160 mg/m2; rituximab 375 mg/m2 | (7) |
| 27 | 2013 | T385M | DBD | MSD | BM (CD3+ depleted) | MAC | BU iv 16 mg/kg; CY 200 mg/kg | (18, 21) |
| 28 | 2013 | N397D | DBD | MUD (10/10) | BM | MAC | BU iv 14.4 mg/kg; CY 120 mg/kg; etoposide 30 mg/m2 | (18) |
| 29* | 2020 | T385K | DBD | MSD | PBSC(T-αß depleted) | Non-myeloablative | ATG; melphalan 100 mg/m2; clofarabine 40 mg/m2; TBI 200 cGy; rituximab 200 mg/m2 | |
| 30 | 2011 | N397D | DBD | MSD | BM | Non-myeloablative | ATG; melphalan 140 mg/m2; Flu 150 mg/m2 | (18, 22) |
| 31 | 2021 | R274W | CCD | MUD (9/10) | PBSC | MAC | ATG; melphalan 140 mg/m2; Flu 150 mg/m2; Cy 150 mg/kg | |
| 32 | 2010 | R274W | CCD | MSD | BM | Non-myeloablative | None | (18) |
| 33 HSCT 1 | 2014 | D165G | CCD | UCB (9/10) | CB | MAC | ATG; BU iv (target AUC 90 mg*h/l); Flu 160 mg/m2 | (18) |
| 33 HSCT 2 | 2014 | D165G | CCD | MUD (10/10) | CB | Myeloablative, reduced intensity | Treo 42 g/m2; Flu 160 mg/m2 | |
| 34* | 2019 | V389G | DBD | MUD (9/10) | BM | MAC | Alemtuzumab; BU iv 9.6 mg/kg; Flu 175 mg/m2; TT 10 mg/kg; CY 100 mg/kg | |
| 35 | 2020 | C324Y | DBD | MUD (9/10) | PBSC | MAC | ATG; Treo 42 g/m2; Flu 150 mg/m2; TT 10 mg/kg | (7) |
| 36* | 2020 | M202V | CCD | MUD (10/10) | PBSC | MAC | Alemtuzumab; melphalan 140 mg/m2; Flu 150 mg/m2; TT 8 mg/kg | (7) |
| Patient . | HSCT year . | STAT1 variant (protein) . | STAT1 mutation protein domain . | Donor (match) . | Graft source . | Conditioning group . | Conditioning agents . | Previously reported (reference) . |
|---|---|---|---|---|---|---|---|---|
| 1* | 2019 | E353K | DBD | MSD | BM | MAC | ATG; BU iv 14 mg/kg; Flu 160 mg/m2 | |
| 2 | 2019 | V653I | SH2D | MUD (10/10) | BM | MAC | ATG; Treo 42 g/m2; Flu 150 mg/m2; TT 8 mg/kg | (24) |
| 3* HSCT 1 | 2021 | K388E | DBD | MUD (10/10) | BM | MAC | Alemtuzumab; Treo 42 g/m2; Flu 150 mg/m2; TT 8 mg/kg | (7) |
| 3 HSCT 2 | 2023 | K388E | DBD | MUD (10/10; 12/12) | BM | MAC | Alemtuzumab; BU iv (target AUC 90 mg*h/l); Flu 160 mg/m2 | |
| 4* | 2023 | R274W | CCD | MUD (10/10; 12/12) | BM | MAC | Alemtuzumab; Treo 42 g/m2; Flu 150 mg/m2; TT 8 mg/kg | |
| 5 | 2021 | P293L | CCD | MUD (10/10) | BM | MAC | ATG; Treo 42 g/m2; Flu 160 mg/m2; TT 10 mg/kg | |
| 6 | 2020 | T385M | DBD | MUD (9/10) | BM | MAC | ATG; Treo 42 g/m2; Flu 160 mg/m2; TT 10 mg/kg | |
| 7* | 2015 | S466R | DBD | MUD (10/10; 11/12) | PBSC | Myeloablative, reduced intensity | Alemtuzumab; Treo 42 g/m2; Flu 150 mg/m2 | (18) |
| 8* | 2018 | L283S | CCD | MUD (10/10; 11/12) | PBSC | Myeloablative, reduced intensity | Alemtuzumab; Treo 42 g/m2; Flu 150 mg/m2 | (25) |
| 9* | 2018 | E705Q | TAD | MUD (10/10; 12/12) | PBSC | Myeloablative, reduced intensity | Alemtuzumab; Treo 42 g/m2; Flu 150 mg/m2 | (15) |
| 10 HSCT 1 | 2014 | T385M | DBD | MUD (10/10) | PBSC; αß-T cell depletion | Myeloablative, reduced intensity | ATG; Treo 42 g/m2; Flu 150 mg/m2; rituximab 375 mg/m2 | (18) |
| 10 HSCT 2 | 2014 | | | ORD (5/10) | PBSC; αß-T cell depletion | MAC | ATG; CY 120 mg/kg; Flu 150 mg/m2; melphalan 140 mg/m2; rituximab 100 mg/m2 | |
| 11* | 2018 | K388R | DBD | ORD (6/10) | PBSC(T-αß depletion) | MAC | ATG; Treo 42 g/m2; Flu 150 mg/m2; TT 10 mg/kg; rituximab 100 mg/m2 | |
| 12 | 2022 | T385M | DBD | MSD | PBSC | MAC | Alemtuzumab; Treo 42 g/m2; Flu 180 mg/m2; TT 10 mg/kg | |
| 13* | 2020 | R274Q | CCD | MUD (10/10) | PBSC | MAC | Alemtuzumab; Treo 42 g/m2; Flu 150 mg/m2; TT 10 mg/kg | |
| 14* | 2021 | R274Q | CCD | MUD (10/10) | BM | MAC | Alemtuzumab; Treo 42 g/m2; Flu 150 mg/m2; TT 10 mg/kg | |
| 15 | 2021 | I294T | CCD | MUD (9/10) | BM | Myeloablative, reduced intensity | ATG; Treo 42 g/m2; Flu 150 mg/m2 | |
| 16* HSCT 1 | 2021 | T288P | CCD | MUD (9/10) | BM plus CD34+-selected PBSC | MAC | ATG; BU iv (target AUC 70 mg*h/l); Flu 160 mg/m2; TT 5 mg/kg | (6, 7) |
| 16 HSCT 2 | 2021 | | | ORD (5/10) | PBSC | Non-myeloablative | Alemtuzumab; CY 29 mg/kg; Flu 150 mg/m2; rituximab 375 mg/m2 | |
| 17* | 2017 | K344E | DBD | MSD | BM | MAC | Alemtuzumab; BU iv 12.8 mg/kg; Flu 180 mg/m2 | (6, 7) |
| 18* | 2020 | L206P | CCD | MUD (9/10) | PBSC | MAC | ATG; Treo 42 g/m2; Flu 150 mg/m2; TT 10 mg/kg | |
| 19* | 2019 | T385M | DBD | MUD (10/10) | BM | MAC | ATG; Treo 42 g/m2; Flu 150 mg/m2; TT 10 mg/kg | (16) |
| 20 | 2016 | T385M | DBD | MSD | CB | Myeloablative, reduced intensity | ATG; Treo 42 g/m2; Flu 160 mg/m2 | (19) |
| 21 | 2015 | C324F | DBD | MUD (10/10) | BM | Myeloablative, reduced intensity | ATG; Treo 42 g/m2; Flu 150 mg/m2 | (19) |
| 22 | 2022 | R210K | CCD | ORD (5/10) | BM | MAC | ATG; BU iv (target AUC 90 mg*h/l); Flu 160 mg/m2; emapalumab 12 mg/kg | (20) |
| 23* | 2021 | T419R | DBD | MSD | BM | MAC | ATG; melphalan 140 mg/m2; Flu 150 mg/m2; TT 10 mg/kg | (7) |
| 24* | 2021 | T385M | DBD | MUD (10/10) | BM | Non-myeloablative | ATG; melphalan 140 mg/m2; Flu 160 mg/m2; TT 10 mg/kg; rituximab 375 mg/m2 | |
| 25* | 2018 | T385M | DBD | MUD (9/10) | PBSC | Non-myeloablative | ATG; melphalan 140 mg/m2; Flu 160 mg/m2; TT 10 mg/kg; rituximab 375 mg/m2 | |
| 26 | 2022 | R210K | CCD | MSD | BM | Myeloablative, reduced intensity | ATG; BU iv 71.75 mg*h/l; Flu 160 mg/m2; rituximab 375 mg/m2 | (7) |
| 27 | 2013 | T385M | DBD | MSD | BM (CD3+ depleted) | MAC | BU iv 16 mg/kg; CY 200 mg/kg | (18, 21) |
| 28 | 2013 | N397D | DBD | MUD (10/10) | BM | MAC | BU iv 14.4 mg/kg; CY 120 mg/kg; etoposide 30 mg/m2 | (18) |
| 29* | 2020 | T385K | DBD | MSD | PBSC(T-αß depleted) | Non-myeloablative | ATG; melphalan 100 mg/m2; clofarabine 40 mg/m2; TBI 200 cGy; rituximab 200 mg/m2 | |
| 30 | 2011 | N397D | DBD | MSD | BM | Non-myeloablative | ATG; melphalan 140 mg/m2; Flu 150 mg/m2 | (18, 22) |
| 31 | 2021 | R274W | CCD | MUD (9/10) | PBSC | MAC | ATG; melphalan 140 mg/m2; Flu 150 mg/m2; Cy 150 mg/kg | |
| 32 | 2010 | R274W | CCD | MSD | BM | Non-myeloablative | None | (18) |
| 33 HSCT 1 | 2014 | D165G | CCD | UCB (9/10) | CB | MAC | ATG; BU iv (target AUC 90 mg*h/l); Flu 160 mg/m2 | (18) |
| 33 HSCT 2 | 2014 | D165G | CCD | MUD (10/10) | CB | Myeloablative, reduced intensity | Treo 42 g/m2; Flu 160 mg/m2 | |
| 34* | 2019 | V389G | DBD | MUD (9/10) | BM | MAC | Alemtuzumab; BU iv 9.6 mg/kg; Flu 175 mg/m2; TT 10 mg/kg; CY 100 mg/kg | |
| 35 | 2020 | C324Y | DBD | MUD (9/10) | PBSC | MAC | ATG; Treo 42 g/m2; Flu 150 mg/m2; TT 10 mg/kg | (7) |
| 36* | 2020 | M202V | CCD | MUD (10/10) | PBSC | MAC | Alemtuzumab; melphalan 140 mg/m2; Flu 150 mg/m2; TT 8 mg/kg | (7) |
ATG; antithymocyte globulin; BU, busulfan; CB, cord blood; CY, cyclophosphamide; DBD, DNA-binding domain; Flu, fludarabine; MAC, myeloablative conditioning; MSD, matched sibling donor; MUD, matched unrelated donor; ORD, other related donor; PBSC, peripheral blood stem cells; SH2D, Src homology 2 domain; TAD, transactivation domain; TBI, total body irradiation; Treo, treosulfan; TT, thiotepa. Patients with * received ruxolitinib prior to their (first) transplant.