Correlation of mutation type, EBV status, clinical phenotype, and outcome in XLP
| Mutation type . | Kindreds . | Phenotypes . | EBV status at 1st manifestation . | Median age (y) of onset . | Median survival (y) . |
|---|---|---|---|---|---|
| Deletion (no SH2D1A) | K043, K051 | FIM (4), dys-(7) | EBV+ (5) | 5 | 7 |
| K063, K073, K088 | LPD (4), AA (0) | EBV− (5) | (0.5-26) | (1-41) | |
| Asx (1) | Und (6) | ||||
| Deletion (truncated SH2D1A) | K001, K005 | FIM (18), dys-(9) | EBV+ (16) | 4 | 9 |
| K032, K055, K060 | LPD (6), AA (2) | EBV− (5) | (0.5-34) | (1-41) | |
| K061, K083, K080 | Asx (0) | Und (14) | |||
| Splice defect | K008, K048 | FIM (11), dys-(1) | EBV+ (5) | 2 | 3 |
| K065 | LPD (3), AA (0) | EBV− (4) | (0.1-5) | (1-20) | |
| Asx (1) | Und (7) | ||||
| Nonsense | K003, K004, K006 | FIM (31), dys-(4) | EBV+ (24) | 3 | 6 |
| K019, K030, K054 | LPD (11), AA (1) | EBV− (8) | (0.5-23) | (0.5-38) | |
| K069, K081, K084 | Asx (1) | Und (17) | |||
| Missense | K002, K037, K038 | FIM (20), dys-(10) | EBV+ (14) | 4 | 7 |
| K046, K053, K062 | LPD (22), AA (2) | EBV− (7) | (1-33) | (1-45) | |
| K068, K082, K089 | Asx (2) | Und (35) |
| Mutation type . | Kindreds . | Phenotypes . | EBV status at 1st manifestation . | Median age (y) of onset . | Median survival (y) . |
|---|---|---|---|---|---|
| Deletion (no SH2D1A) | K043, K051 | FIM (4), dys-(7) | EBV+ (5) | 5 | 7 |
| K063, K073, K088 | LPD (4), AA (0) | EBV− (5) | (0.5-26) | (1-41) | |
| Asx (1) | Und (6) | ||||
| Deletion (truncated SH2D1A) | K001, K005 | FIM (18), dys-(9) | EBV+ (16) | 4 | 9 |
| K032, K055, K060 | LPD (6), AA (2) | EBV− (5) | (0.5-34) | (1-41) | |
| K061, K083, K080 | Asx (0) | Und (14) | |||
| Splice defect | K008, K048 | FIM (11), dys-(1) | EBV+ (5) | 2 | 3 |
| K065 | LPD (3), AA (0) | EBV− (4) | (0.1-5) | (1-20) | |
| Asx (1) | Und (7) | ||||
| Nonsense | K003, K004, K006 | FIM (31), dys-(4) | EBV+ (24) | 3 | 6 |
| K019, K030, K054 | LPD (11), AA (1) | EBV− (8) | (0.5-23) | (0.5-38) | |
| K069, K081, K084 | Asx (1) | Und (17) | |||
| Missense | K002, K037, K038 | FIM (20), dys-(10) | EBV+ (14) | 4 | 7 |
| K046, K053, K062 | LPD (22), AA (2) | EBV− (7) | (1-33) | (1-45) | |
| K068, K082, K089 | Asx (2) | Und (35) |
FIM, fulminant infectious mononucleosis; dys-γ, dysgammaglobulinemia; LPD, lyphoproliferative disease; AA, aplastic anemia; Asx, asymptomatic; Und, undeterminable. Median age of onset and survival are given in years, with ranges in parentheses below.