Characteristics of patients with mutations in XIAP (XLP-2)
| Patient ID* . | XIAP mutation . | XIAP 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) . | Chronic colitis (age in years at diagnosis) . | Other manifestations (age in years at diagnosis) . | Outcome (age in years) . |
|---|---|---|---|---|---|---|---|---|---|---|
| X1.1 | E99KfsX129 | 5 | + | ? | ? | − | − | ? | Alive, well (8) | |
| X1.2 | E99KfsX129 | − | 5.3 | + | ? | + (5) | − | − | ? | Alive, well (11) |
| X1.3 | E99KfsX129 | 2.5 | + | ? | + (2.5) | + | − | ? | Alive, well, IVIG (14) | |
| X1.4 | E99KfsX129 | − | 7.8 | + | + | + (6) | − | + (4) | Cholangitis (23) | Alive, ileitis (23) |
| X1.5 | E99KfsX129 | 3 | + | + | + (3) | − | − | − | Alive, well (30) | |
| X1.6 | E99KfsX129 | − | 0.8 | − (HHV-6+/−) | + (EBV+) | + (1)‡ | +(10) | − | − | HSCT (11), died (11) |
| X1.7 | ND | 1.5† | ? | + | + (1.5)‡ | +(42) | + (41) | Cholangitis (41) | Died (42, colitis) | |
| X2.1 | I397FfsX414 | − | 1.2 | + | + | + (1)‡ | − | − | − | HSCT (1.6), died (d+13, HLH) |
| X3.1 | E118X | − | 23 | + | + | + (22) | +(22) | − | − | Alive, well, IVIG (39) |
| X3.2 | ND | 0.5 | ? | − | ? | ? | − | Died (0.5, HLH) | ||
| X3.3 | ND | 20 | + | − | ? | ? | − | Died (20, HLH) | ||
| X3.4 | E118X | − | − | NA | − | + (7) | − | − | − | Alive, well, SM (10) |
| X4.1 | del. of exon 2 | − | 20 | + | + (21,EBV+) | + (1)‡ | − | − | − | Alive, well (28) |
| X4.2 | del. of exon 2 | − | 10 | ? | + (11, EBV+) | + (6)‡ | − | − | − | Alive, well (15) |
| X5.1 | D130GfsX140 | − | 2.5 | + | + (3.4-3.6) | + (1) | − | − | − | HSCT (3.6), died (4) |
| X5.2 | ND | 0.1 | ? | − | ? | ? | − | − | Died (0.1, HLH) | |
| X5.3 | ND | 3.5 | + | − | ? | ? | − | − | Died (3.5, HLH) | |
| X6.1 | R238X | − | 1.7 | + | + | +‡ | − | − | − | Alive, recurrent HLH (3) |
| X7.1 | I397NfsX405 | − | 2.7 | + | + (3.2-3.5, EBV+) | + (2.7) | − | − | − | Alive, recurrent HLH (3.5) |
| X8.1 | E434AfsX457 | +/− | 15.5 | + | − | − | − | − | − | Alive, well (16) |
| X9.1 | G466X | +/− | 8† | + | − | + (8)‡ | + (8)§ | − | − | Alive, well, SM (27) |
| X9.2 | G466X | +/− | − | NA | − | + (21) | + (21)§ | − | − | Alive, well, SM (30) |
| X9.3 | G466X | +/− | − | NA | − | + (4)‡ | − | + (12) | Recurrent infections | Alive, colitis (14) |
| X9.4 | G466X | +/− | − | NA | − | + (22)‡ | + (10)§ | − | Chronic liver failure (22) | Died (29, liver failure), IVIG, |
| X9.5 | G466X | +/− | − | NA | − | − | − | − | − | Alive, well (39) |
| X9.6 | ND | − | NA | − | ? | ? | + | ? | Died (27, colitis) | |
| X9.7 | ND | − | NA | − | +‡ | ? | − | Recurrent infections | Died (52, pneumonia) | |
| X10.1 | T470S | + | 8† | − (HSV-1+) | − | − | + (4)§ | − | Cryptococcosis (4) | Alive, well, IVIG (8) |
| X11.1 | R381X | − | 0.9† | − | NA | + (0.6)‡ | − | − | − | HSCT (1.2), died (1.4) |
| X11.2 | ND | ? | ? | ? | ? | ? | +(4) | ? | Died (4, colitis) |
| Patient ID* . | XIAP mutation . | XIAP 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) . | Chronic colitis (age in years at diagnosis) . | Other manifestations (age in years at diagnosis) . | Outcome (age in years) . |
|---|---|---|---|---|---|---|---|---|---|---|
| X1.1 | E99KfsX129 | 5 | + | ? | ? | − | − | ? | Alive, well (8) | |
| X1.2 | E99KfsX129 | − | 5.3 | + | ? | + (5) | − | − | ? | Alive, well (11) |
| X1.3 | E99KfsX129 | 2.5 | + | ? | + (2.5) | + | − | ? | Alive, well, IVIG (14) | |
| X1.4 | E99KfsX129 | − | 7.8 | + | + | + (6) | − | + (4) | Cholangitis (23) | Alive, ileitis (23) |
| X1.5 | E99KfsX129 | 3 | + | + | + (3) | − | − | − | Alive, well (30) | |
| X1.6 | E99KfsX129 | − | 0.8 | − (HHV-6+/−) | + (EBV+) | + (1)‡ | +(10) | − | − | HSCT (11), died (11) |
| X1.7 | ND | 1.5† | ? | + | + (1.5)‡ | +(42) | + (41) | Cholangitis (41) | Died (42, colitis) | |
| X2.1 | I397FfsX414 | − | 1.2 | + | + | + (1)‡ | − | − | − | HSCT (1.6), died (d+13, HLH) |
| X3.1 | E118X | − | 23 | + | + | + (22) | +(22) | − | − | Alive, well, IVIG (39) |
| X3.2 | ND | 0.5 | ? | − | ? | ? | − | Died (0.5, HLH) | ||
| X3.3 | ND | 20 | + | − | ? | ? | − | Died (20, HLH) | ||
| X3.4 | E118X | − | − | NA | − | + (7) | − | − | − | Alive, well, SM (10) |
| X4.1 | del. of exon 2 | − | 20 | + | + (21,EBV+) | + (1)‡ | − | − | − | Alive, well (28) |
| X4.2 | del. of exon 2 | − | 10 | ? | + (11, EBV+) | + (6)‡ | − | − | − | Alive, well (15) |
| X5.1 | D130GfsX140 | − | 2.5 | + | + (3.4-3.6) | + (1) | − | − | − | HSCT (3.6), died (4) |
| X5.2 | ND | 0.1 | ? | − | ? | ? | − | − | Died (0.1, HLH) | |
| X5.3 | ND | 3.5 | + | − | ? | ? | − | − | Died (3.5, HLH) | |
| X6.1 | R238X | − | 1.7 | + | + | +‡ | − | − | − | Alive, recurrent HLH (3) |
| X7.1 | I397NfsX405 | − | 2.7 | + | + (3.2-3.5, EBV+) | + (2.7) | − | − | − | Alive, recurrent HLH (3.5) |
| X8.1 | E434AfsX457 | +/− | 15.5 | + | − | − | − | − | − | Alive, well (16) |
| X9.1 | G466X | +/− | 8† | + | − | + (8)‡ | + (8)§ | − | − | Alive, well, SM (27) |
| X9.2 | G466X | +/− | − | NA | − | + (21) | + (21)§ | − | − | Alive, well, SM (30) |
| X9.3 | G466X | +/− | − | NA | − | + (4)‡ | − | + (12) | Recurrent infections | Alive, colitis (14) |
| X9.4 | G466X | +/− | − | NA | − | + (22)‡ | + (10)§ | − | Chronic liver failure (22) | Died (29, liver failure), IVIG, |
| X9.5 | G466X | +/− | − | NA | − | − | − | − | − | Alive, well (39) |
| X9.6 | ND | − | NA | − | ? | ? | + | ? | Died (27, colitis) | |
| X9.7 | ND | − | NA | − | +‡ | ? | − | Recurrent infections | Died (52, pneumonia) | |
| X10.1 | T470S | + | 8† | − (HSV-1+) | − | − | + (4)§ | − | Cryptococcosis (4) | Alive, well, IVIG (8) |
| X11.1 | R381X | − | 0.9† | − | NA | + (0.6)‡ | − | − | − | HSCT (1.2), died (1.4) |
| X11.2 | ND | ? | ? | ? | ? | ? | +(4) | ? | Died (4, colitis) |
SM indicates recurrent splenomegaly or hepatosplenomegaly; Hypo-γ, hypogammaglobulinemia; ?, unknown; HSCT, hematopoietic stem cell transplantation; ND, not done; NA, not applicable; and del., deletion.
Patient identification: X indicates XIAP deficiency, the first number corresponds to the family and the second to the individual patient; + indicates yes or positive; −, no or negative; and +/−, weakly positive.
Diagnosed as incomplete HLH.
Recurrent splenomegaly or hepatosplenomegaly associated with intermittent fever, anemia, and cytopenia.
With recurrent respiratory infections.