Patients with HPS2
| Patient no./ID (reference)* . | AP3B1 mutation . | Age at last visit, years . | Clinical features . | NK or CTL cytotoxicity and/or degranulation . | ||||
|---|---|---|---|---|---|---|---|---|
| Neutropenia . | Bleeding . | Recurrent infections . | Pulmonary fibrosis . | HLH . | ||||
| 1 (7) | EX10 c.1063_1064delCAinsTATCAATATC; p.Q355fsX360 | 7 | + (G-CSF) | − | + | − | − | Impaired |
| EX16 c. 1789_1790insA; p.I597fsX608 | ||||||||
| 27 | EX10 c.1063_1064delCAinsTATCAATATC; p.Q355fsX360 | 4 | + (G-CSF) | + | + | + | One incomplete episode | Impaired |
| EX16 c. 1789_1790insA; p.I597fsX608 | ||||||||
| P2 (6) | EX19 c.2078_2165del; p.E693fsX706 | 6 | + | − | − | − | − | Impaired |
| P3 (6) | EX2 c.153_156delAGAG p.E52fsX63 | 7.2 | + (G-CSF) | − | + | (+) | Two incomplete episodes | Impaired |
| FR5† | EX27 c.3222_3223delTG; p.E1075fs | 5‡ | + | ++ | + | ++ | − | Impaired |
| FR1378 | EX27 c.3222_3223delTG; p.E1075fs | 13 | + (G-CSF) | (+) | (+) | + | − | Impaired |
| 29 (14) | EX15 g.del8172bp; p.del491-550 | 18 | + (G-CSF) | − | + | n.a. | − | n.a. |
| 30 (14) | EX15 g.del8172bp; p.del491-550 | 21 | + (G-CSF) | − | + | n.a. | − | n.a. |
| 40 (2) | EX11-12 c.1166_1228del; p.del390-410 | 22 | + | + | + | + | − | n.a. |
| EX16 c.1739T>G; p.L580R | − | |||||||
| 42 (2) | EX11-12 c.1166_1228del; p.del390-410 | 27 | + | + | + | + | − | n.a. |
| EX16 c.1739T>G; p.L580R | ||||||||
| FR50 | Del Exon 16 | 16‡ | + (G-CSF) | − | + | ++ | − | Impaired |
| 87 (13) | Ex15 c.1525C>T; p.R509× | 17 | + | + | + | + | − | Impaired |
| Ex18 c.1975G>T; p.E659× | ||||||||
| FR393 (5) | EX8 c.904A>T; p.R302× | 3‡ | + | + | + | − | One lethal episode | Impaired |
| FR1315 | EX18 c.2041G>T; p.E681× | 2 | + (G-CSF) | − | − | − | Two episodes | Impaired |
| A, P (11) | IVS10+5G>A | 6 | + (G-CSF) | + | + | + | − | n.a. |
| C, B | EX1 c60_delG; p.L20fsX41 | 1,25‡ | + | n.a. | + | n.a. | − | Impaired |
| C, A | EX1 c60_delG; p.L20fsX41 | 2‡ | + (G-CSF) | n.a. | + | n.a. | − | Impaired |
| L, M | EX23 c.2770_delC; p.L924fsX926 | 2.5 | + (G-CSF) | (+) | (+) | − | − | Impaired |
| W, M | EX23 c.2770_delC; p.L924fsX926 | 11 | + (G-CSF) | (+) | (+) | − | − | Impaired |
| M, Z | EX4 c.205T>C p.L102P | 11 | + | + | − | − | − | n.a. |
| n.a. (12) | IVS14+6T>C | 30 | − | − | − | − | − | Impaired |
| EX15 c.1619insG; p.A541fsX565 | ||||||||
| n.a. | inv (5) (q14.1) | 2.25 | + | − | + | − | − | Impaired |
| Patient no./ID (reference)* . | AP3B1 mutation . | Age at last visit, years . | Clinical features . | NK or CTL cytotoxicity and/or degranulation . | ||||
|---|---|---|---|---|---|---|---|---|
| Neutropenia . | Bleeding . | Recurrent infections . | Pulmonary fibrosis . | HLH . | ||||
| 1 (7) | EX10 c.1063_1064delCAinsTATCAATATC; p.Q355fsX360 | 7 | + (G-CSF) | − | + | − | − | Impaired |
| EX16 c. 1789_1790insA; p.I597fsX608 | ||||||||
| 27 | EX10 c.1063_1064delCAinsTATCAATATC; p.Q355fsX360 | 4 | + (G-CSF) | + | + | + | One incomplete episode | Impaired |
| EX16 c. 1789_1790insA; p.I597fsX608 | ||||||||
| P2 (6) | EX19 c.2078_2165del; p.E693fsX706 | 6 | + | − | − | − | − | Impaired |
| P3 (6) | EX2 c.153_156delAGAG p.E52fsX63 | 7.2 | + (G-CSF) | − | + | (+) | Two incomplete episodes | Impaired |
| FR5† | EX27 c.3222_3223delTG; p.E1075fs | 5‡ | + | ++ | + | ++ | − | Impaired |
| FR1378 | EX27 c.3222_3223delTG; p.E1075fs | 13 | + (G-CSF) | (+) | (+) | + | − | Impaired |
| 29 (14) | EX15 g.del8172bp; p.del491-550 | 18 | + (G-CSF) | − | + | n.a. | − | n.a. |
| 30 (14) | EX15 g.del8172bp; p.del491-550 | 21 | + (G-CSF) | − | + | n.a. | − | n.a. |
| 40 (2) | EX11-12 c.1166_1228del; p.del390-410 | 22 | + | + | + | + | − | n.a. |
| EX16 c.1739T>G; p.L580R | − | |||||||
| 42 (2) | EX11-12 c.1166_1228del; p.del390-410 | 27 | + | + | + | + | − | n.a. |
| EX16 c.1739T>G; p.L580R | ||||||||
| FR50 | Del Exon 16 | 16‡ | + (G-CSF) | − | + | ++ | − | Impaired |
| 87 (13) | Ex15 c.1525C>T; p.R509× | 17 | + | + | + | + | − | Impaired |
| Ex18 c.1975G>T; p.E659× | ||||||||
| FR393 (5) | EX8 c.904A>T; p.R302× | 3‡ | + | + | + | − | One lethal episode | Impaired |
| FR1315 | EX18 c.2041G>T; p.E681× | 2 | + (G-CSF) | − | − | − | Two episodes | Impaired |
| A, P (11) | IVS10+5G>A | 6 | + (G-CSF) | + | + | + | − | n.a. |
| C, B | EX1 c60_delG; p.L20fsX41 | 1,25‡ | + | n.a. | + | n.a. | − | Impaired |
| C, A | EX1 c60_delG; p.L20fsX41 | 2‡ | + (G-CSF) | n.a. | + | n.a. | − | Impaired |
| L, M | EX23 c.2770_delC; p.L924fsX926 | 2.5 | + (G-CSF) | (+) | (+) | − | − | Impaired |
| W, M | EX23 c.2770_delC; p.L924fsX926 | 11 | + (G-CSF) | (+) | (+) | − | − | Impaired |
| M, Z | EX4 c.205T>C p.L102P | 11 | + | + | − | − | − | n.a. |
| n.a. (12) | IVS14+6T>C | 30 | − | − | − | − | − | Impaired |
| EX15 c.1619insG; p.A541fsX565 | ||||||||
| n.a. | inv (5) (q14.1) | 2.25 | + | − | + | − | − | Impaired |