Categorization and genetic characterization of samples
| Category . | Subgroup . | Number of individuals . | Total . |
|---|---|---|---|
| EXO | UNC13D (FHL3) | 35 | |
| STX11 (FHL4) | 12 | ||
| STXBP2 (FHL5) | 13 | ||
| LYST (CHS) | 19 | ||
| RAB27A (GS2) | 10 | ||
| AP3B1 (HPS2) | 2 | ||
| RHOG | 1 | 92 | |
| IEI (non-EXO) | PRF1 (FHL2) | 30 | |
| SH2D1A (XLP1) | 8 | ||
| XIAP (XLP2) | 8 | ||
| CD27 | 3 | ||
| GATA2 | 3 | ||
| MAGT1 (XMEN) | 2 | ||
| ZNFX1 | 2 | ||
| CYBA | 1 | ||
| ITK | 1 | 58 | |
| HYPINF | Secondary HLH | 33 | |
| soJIA/MAS | 30 | 63 | |
| HD-CTRL | Healthy donors | 198 | 198 |
| TRP-CTRL | Transport controls | 84 | 84 |
| Grand total | 495 |
| Category . | Subgroup . | Number of individuals . | Total . |
|---|---|---|---|
| EXO | UNC13D (FHL3) | 35 | |
| STX11 (FHL4) | 12 | ||
| STXBP2 (FHL5) | 13 | ||
| LYST (CHS) | 19 | ||
| RAB27A (GS2) | 10 | ||
| AP3B1 (HPS2) | 2 | ||
| RHOG | 1 | 92 | |
| IEI (non-EXO) | PRF1 (FHL2) | 30 | |
| SH2D1A (XLP1) | 8 | ||
| XIAP (XLP2) | 8 | ||
| CD27 | 3 | ||
| GATA2 | 3 | ||
| MAGT1 (XMEN) | 2 | ||
| ZNFX1 | 2 | ||
| CYBA | 1 | ||
| ITK | 1 | 58 | |
| HYPINF | Secondary HLH | 33 | |
| soJIA/MAS | 30 | 63 | |
| HD-CTRL | Healthy donors | 198 | 198 |
| TRP-CTRL | Transport controls | 84 | 84 |
| Grand total | 495 |
Number and categories of patients included in this study by their respective groups retrospectively compiled from 1 center over 10.5 years. EXO, individuals with NK/CTL exocytosis defect; HD-CTRL, healthy adult volunteers; HYPINF, individuals with a hyperinflammatory syndrome fulfilling HLH criteria; IEI, individuals with other inborn errors of immunity excluding EXO; TRP-CTRL, healthy adult transport controls; XLP, X-linked lymphoproliferative disease; XMEN, X-linked MAGT1 deficiency with increased susceptibility to Epstein-Barr virus infection and N-linked glycosylation defect.