Table 1.
Characteristics of cohort
| Population characteristics | Total patient number n = 60 |
|---|---|
| Sex, n (%) | |
| Male | 27 (45) |
| Female | 33 (55) |
| Median year of birth | 2008 (1976-2017) |
| Mutation type, n (%) | |
| RAG 1 | 46 (77) |
| RAG 2 | 14 (23) |
| Homozygous | 19 (32) |
| Compound heterozygous | 41 (68) |
| Median age at first symptoms, y (range) | 1.4 (0-15.4) |
| Median age at diagnosis, y (range) | 3.3 (0-39.9) |
| Diagnosed by newborn or family screening, n (%) | 8 (13) |
| Infection before HSCT, n (%) | 47 (78) |
| Active infection before HSCT, n (%) | 17 (29) out of 58 |
| Presence of autoimmunity and/or granuloma before HSCT, n (%) | 47 (78) |
| Autoimmunity | 43 (72) |
| Autoimmune cytopenia | 33 (55) |
| Other autoimmune disease | 24 (41) |
| Granuloma | 11 (18) |
| Active autoimmunity and/or granuloma before HSCT, n (%) | 32 (58) out of 55 |
| Malignancy/lymphoma, n (%) | 2 (3) |
| Organ damage, n (%) | 34 (57) |
| Lung | 30 (50) |
| Liver | 10 (17) |
| Kidney | 6 (10) |
| Other | 9 (15) |
“Other” organ damage refers to gastrointestinal complications (n = 7), steroid-induced diabetes (n = 1), and vasculitis-associated epilepsy (n = 1). For details of organ damage please refer to supplemental Table 6.