Characteristics of patients before HCT
| Characteristic . | Data (N = 129) . |
|---|---|
| Year of HCT | |
| 2005-2010 | 79 (61) |
| 2011-2015 | 50 (39) |
| Age at HCT, y | |
| <1 | 53 (41) |
| 1-1.99 | 40 (31) |
| 2-4.99 | 24 (19) |
| ≥5 | 12 (9) |
| Lansky/Karnofsky | |
| Median (range) | 100 (60-100) |
| Family history of WAS | |
| Yes | 48 (37) |
| No | 69 (54) |
| Unknown | 12 (9) |
| History of eczema before HCT | |
| Yes | 111 (86) |
| No | 15 (12) |
| Unknown | 3 (2) |
| History of chronic thrombocytopenia before HCT* | |
| Yes | 109 (85) |
| No | 13 (10) |
| Unknown | 7 (5) |
| History of splenectomy before HCT | |
| Yes | 8 (6) |
| No | 121 (94) |
| WAS mutations identified | |
| Nonsense | 30 (23) |
| Frameshift | 34 (26) |
| Deletion | 21 (16) |
| Insertion | 12 (9) |
| Deletion/insertion | 1 (1) |
| Missense | 30 (23) |
| Splice site | 20 (15) |
| Invariant | 13 (10) |
| Variant | 7 (5) |
| In-frame insertion | 2 (2) |
| Large deletion | 5 (4) |
| Unknown | 8 (6) |
| WASP expression by flow cytometry or predicted | |
| Absent | 83 (64) |
| Reduced | 42 (33) |
| Normal | 2 (1.5) |
| Unknown | 2 (1.5) |
| History of recurrent or severe infections before HCT | |
| Yes | 64 (50) |
| No | 65 (50) |
| History of autoimmune disease before HCT/present at time of conditioning | |
| Yes | 32 (25)/26 (20) |
| Thrombocytopenia | 19 (15)/17 (13) |
| Hemolytic anemia | 10 (8)/6 (5) |
| Neutropenia | 7 (5)/5 (4) |
| Vasculitis | 3 (2)/1 (1) |
| Inflammatory bowel disease | 2 (2)/2 (2) |
| Arthritis | 1 (1)/1 (1) |
| Nephritis | 1 (1)/1 (1) |
| Alopecia | 1 (1)/1 (1) |
| No | 91 (70) |
| Unknown | 6 (5) |
| Characteristic . | Data (N = 129) . |
|---|---|
| Year of HCT | |
| 2005-2010 | 79 (61) |
| 2011-2015 | 50 (39) |
| Age at HCT, y | |
| <1 | 53 (41) |
| 1-1.99 | 40 (31) |
| 2-4.99 | 24 (19) |
| ≥5 | 12 (9) |
| Lansky/Karnofsky | |
| Median (range) | 100 (60-100) |
| Family history of WAS | |
| Yes | 48 (37) |
| No | 69 (54) |
| Unknown | 12 (9) |
| History of eczema before HCT | |
| Yes | 111 (86) |
| No | 15 (12) |
| Unknown | 3 (2) |
| History of chronic thrombocytopenia before HCT* | |
| Yes | 109 (85) |
| No | 13 (10) |
| Unknown | 7 (5) |
| History of splenectomy before HCT | |
| Yes | 8 (6) |
| No | 121 (94) |
| WAS mutations identified | |
| Nonsense | 30 (23) |
| Frameshift | 34 (26) |
| Deletion | 21 (16) |
| Insertion | 12 (9) |
| Deletion/insertion | 1 (1) |
| Missense | 30 (23) |
| Splice site | 20 (15) |
| Invariant | 13 (10) |
| Variant | 7 (5) |
| In-frame insertion | 2 (2) |
| Large deletion | 5 (4) |
| Unknown | 8 (6) |
| WASP expression by flow cytometry or predicted | |
| Absent | 83 (64) |
| Reduced | 42 (33) |
| Normal | 2 (1.5) |
| Unknown | 2 (1.5) |
| History of recurrent or severe infections before HCT | |
| Yes | 64 (50) |
| No | 65 (50) |
| History of autoimmune disease before HCT/present at time of conditioning | |
| Yes | 32 (25)/26 (20) |
| Thrombocytopenia | 19 (15)/17 (13) |
| Hemolytic anemia | 10 (8)/6 (5) |
| Neutropenia | 7 (5)/5 (4) |
| Vasculitis | 3 (2)/1 (1) |
| Inflammatory bowel disease | 2 (2)/2 (2) |
| Arthritis | 1 (1)/1 (1) |
| Nephritis | 1 (1)/1 (1) |
| Alopecia | 1 (1)/1 (1) |
| No | 91 (70) |
| Unknown | 6 (5) |
Unless otherwise specified, data are the number of recipients (percentage of total study group).
Chronic thrombocytopenia is defined as a platelet count <100 000/μL on 2 evaluations separated by at least 3 months.