Characteristics of patients with mutations in SH2D1A/SAP (XLP-1)
| Patient ID* . | SH2D1A/SAP mutation . | SAP protein . | HLH (age in years at diagnosis) . | EBV at first HLH . | HLH relapses (age in years at relapse) . | SM (age in years at diagnosis) . | Hypo-γ (age in years at diagnosis) . | Lymphoma (age in years at diagnosis) . | Other manifestations (age in years at diagnosis) . | Outcome (age in years) . |
|---|---|---|---|---|---|---|---|---|---|---|
| S1.1 | E67G | − | NA | − | − | 13 | − | Alive, well (19) | ||
| S1.2 | E67G | − | 3 | + | + (25) | − | + (26) | 34 | − | Alive, under lymphoma treatment (34) |
| S1.3 | E67G | 15 | ? | − | − | − | 7, 30 | − | Alive, under lymphoma treatment (30) | |
| S1.4 | E67G | − | NA | − | + (4)† | − | − | Alive, well, IVIG (10) | ||
| S2.1 | I96X | − | 4 | ? | − | ? | ? | − | − | Died (4, HLH) |
| S3.1 | del. of exons 1-4 | − | NA | − | +† | − | Chronic gastritis, | Alive, well, IVIG (20) | ||
| S3.2 | del. of exons 1-4 | − | NA | − | +† | − | IM (2), chronic gastritis | Alive, well, IVIG (20) | ||
| S4.1 | R55X | − | NA | − | − | 40 | − | Alive, well (42) | ||
| S4.2 | ND | 6 | + | − | − | − | − | − | Died (6, HLH) | |
| S5.1 | del. of exon 2 | 3.7 | + | − | ? | ? | − | − | Died (3.7, HLH) | |
| S5.2 | ND | − | NA | − | ? | 5 | − | Died (5, lymphoma) | ||
| S6.1 | del. of exon 1 | 2.2 | + | − | − | ? | − | − | Died (2.2, HLH) | |
| S7.1 | R55X | − | 2.5 | + | − | − | ? | − | Recurrent infections | HSCT (2.7), alive (11) |
| S8.1 | X129RfsX141 | − | 2.4 | + | + (9) | − | + (3)† | − | − | First HSCT (9); second HSCT (10); died (10.2) |
| S8.2 | ND | 2 | + | − | − | ? | − | − | Died (2, HLH) | |
| S9.1 | C42Y | +/− | − | NA | − | − | 2 | − | Alive (18) | |
| S9.2 | C42Y | − | NA | − | + (1)† | − | − | Alive, well, IVIG (16) | ||
| S10.1 | R55Q | 14 | ? | − | ? | ? | − | − | Died (14, HLH) | |
| S11.1 | X129R fsX141 | − | − | NA | − | + | − | − | Alive, well, N+T, IVIG (22) | |
| S11.2 | X129R fsX141 | − | NA | ? | ? | − | Recurrent pneumonia | Alive, well (66) | ||
| S11.3 | X129R fsX141 | − | NA | − | + | − | − | Alive, well, IVIG (15) | ||
| S11.4 | X129R fsX141 | − | NA | − | + (9) | 7 | − | Alive, well, IVIG (19) | ||
| S12.1 | del. of exon 3 | − | 19 | + | − | − | + (10)† | 11 | T (22) | Alive, T, IVIG (23) |
| S12.2 | del. of exon 3 | 19 | ? | − | − | + (19)† | 20 | − | Died (21, lymphoma) | |
| S13.1 | N82FfsX103 | ND | 10§ | − | + (12, EBV+) | + (9)‡ | ? | − | − | Died (12, HLH) |
| S14.1 | del. of exons 1-4 | 3.5 | + | − | − | − | − | HUS (3.5) | Died (3.6, HLH) | |
| S15.1 | A22P | − | − | NA | − | + (13)† | − | − | Alive, well, IVIG (25) | |
| S15.2 | ND | 3.6 | ? | − | − | ? | − | − | Died (3.6, HLH) | |
| S15.3 | ND | − | NA | + (45)‡ | ? | − | − | Died (69, myelodysplasia) | ||
| S16.1 | del. of exons 2-4 | − | 3.1 | + | − | − | ? | − | − | Died (3.1, HLH) |
| S17.1 | M1T | − | − | NA | − | − | + (4)† | − | IM (2.4) | Alive, N+T, IVIG (20) |
| S18.1 | No mutation | − | 16§ | ? | − | − | + (15)† | 9 | − | Died (17, HLH) |
| S19.1 | del. of exons 1-4 | − | 3.3 | + | − | − | − | Hypopigmented hair | HSCT (3.7), died (3.8) |
| Patient ID* . | SH2D1A/SAP mutation . | SAP protein . | HLH (age in years at diagnosis) . | EBV at first HLH . | HLH relapses (age in years at relapse) . | SM (age in years at diagnosis) . | Hypo-γ (age in years at diagnosis) . | Lymphoma (age in years at diagnosis) . | Other manifestations (age in years at diagnosis) . | Outcome (age in years) . |
|---|---|---|---|---|---|---|---|---|---|---|
| S1.1 | E67G | − | NA | − | − | 13 | − | Alive, well (19) | ||
| S1.2 | E67G | − | 3 | + | + (25) | − | + (26) | 34 | − | Alive, under lymphoma treatment (34) |
| S1.3 | E67G | 15 | ? | − | − | − | 7, 30 | − | Alive, under lymphoma treatment (30) | |
| S1.4 | E67G | − | NA | − | + (4)† | − | − | Alive, well, IVIG (10) | ||
| S2.1 | I96X | − | 4 | ? | − | ? | ? | − | − | Died (4, HLH) |
| S3.1 | del. of exons 1-4 | − | NA | − | +† | − | Chronic gastritis, | Alive, well, IVIG (20) | ||
| S3.2 | del. of exons 1-4 | − | NA | − | +† | − | IM (2), chronic gastritis | Alive, well, IVIG (20) | ||
| S4.1 | R55X | − | NA | − | − | 40 | − | Alive, well (42) | ||
| S4.2 | ND | 6 | + | − | − | − | − | − | Died (6, HLH) | |
| S5.1 | del. of exon 2 | 3.7 | + | − | ? | ? | − | − | Died (3.7, HLH) | |
| S5.2 | ND | − | NA | − | ? | 5 | − | Died (5, lymphoma) | ||
| S6.1 | del. of exon 1 | 2.2 | + | − | − | ? | − | − | Died (2.2, HLH) | |
| S7.1 | R55X | − | 2.5 | + | − | − | ? | − | Recurrent infections | HSCT (2.7), alive (11) |
| S8.1 | X129RfsX141 | − | 2.4 | + | + (9) | − | + (3)† | − | − | First HSCT (9); second HSCT (10); died (10.2) |
| S8.2 | ND | 2 | + | − | − | ? | − | − | Died (2, HLH) | |
| S9.1 | C42Y | +/− | − | NA | − | − | 2 | − | Alive (18) | |
| S9.2 | C42Y | − | NA | − | + (1)† | − | − | Alive, well, IVIG (16) | ||
| S10.1 | R55Q | 14 | ? | − | ? | ? | − | − | Died (14, HLH) | |
| S11.1 | X129R fsX141 | − | − | NA | − | + | − | − | Alive, well, N+T, IVIG (22) | |
| S11.2 | X129R fsX141 | − | NA | ? | ? | − | Recurrent pneumonia | Alive, well (66) | ||
| S11.3 | X129R fsX141 | − | NA | − | + | − | − | Alive, well, IVIG (15) | ||
| S11.4 | X129R fsX141 | − | NA | − | + (9) | 7 | − | Alive, well, IVIG (19) | ||
| S12.1 | del. of exon 3 | − | 19 | + | − | − | + (10)† | 11 | T (22) | Alive, T, IVIG (23) |
| S12.2 | del. of exon 3 | 19 | ? | − | − | + (19)† | 20 | − | Died (21, lymphoma) | |
| S13.1 | N82FfsX103 | ND | 10§ | − | + (12, EBV+) | + (9)‡ | ? | − | − | Died (12, HLH) |
| S14.1 | del. of exons 1-4 | 3.5 | + | − | − | − | − | HUS (3.5) | Died (3.6, HLH) | |
| S15.1 | A22P | − | − | NA | − | + (13)† | − | − | Alive, well, IVIG (25) | |
| S15.2 | ND | 3.6 | ? | − | − | ? | − | − | Died (3.6, HLH) | |
| S15.3 | ND | − | NA | + (45)‡ | ? | − | − | Died (69, myelodysplasia) | ||
| S16.1 | del. of exons 2-4 | − | 3.1 | + | − | − | ? | − | − | Died (3.1, HLH) |
| S17.1 | M1T | − | − | NA | − | − | + (4)† | − | IM (2.4) | Alive, N+T, IVIG (20) |
| S18.1 | No mutation | − | 16§ | ? | − | − | + (15)† | 9 | − | Died (17, HLH) |
| S19.1 | del. of exons 1-4 | − | 3.3 | + | − | − | − | Hypopigmented hair | HSCT (3.7), died (3.8) |
SM indicates recurrent splenomegaly or hepatosplenomegaly; Hypo-γ, hypogammaglobulinemia; NA, not applicable; del., deletion; ?, unknown; IM, infectious mononucleosis; ND, not done; HSCT, hematopoietic stem cell transplantation; N, neutropenia; T, thrombocytopenia; and HUS, hemolytic uremic syndrome.
Patient identification: S indicates SAP-deficiency, the first number corresponds to the family and the second to the individual patient.
With recurrent respiratory infections; + indicates yes or positive; −, no or negative.
Recurrent splenomegaly or hepatosplenomegaly associated with intermittent fever, anemia, and cytopenia.
Diagnosed as incomplete HLH.