The characteristics of RAG deficient patients with AIHA
| Variables (median, IQR; n, %) . | All (n = 85) . | Evans (+) (n = 37) . | Evans (–) (n = 48) . | P value∗ . |
|---|---|---|---|---|
| Age (y) | ||||
| Clinical diagnosis | 1.3 (0.7-2.5) (n = 77) | 1.3 (0.9-3.0) (n = 33) | 1.1 (0.4-2.4) (n = 44) | .117 |
| Molecular diagnosis | 3.0 (1.3-8.0) (n = 77) | 4.0 (1.6-10.5) (n = 32) | 2.8 (1.2-7.3) (n = 45) | .345 |
| Male | 34 (44.7) (n = 76) | 12 (34.3) (n = 35) | 22 (53.7) (n = 41) | .109 |
| Clinical phenotype: CID-G/AI | 36 (42.3) | 18 (48.6) | 18 (37.5) | .302 |
| RAG1 genotype | 71 (83.5) | 33 (89.2) | 38 (79.2) | .253 |
| Relative RAG1 activity (per allele) | 7.2 (2.4-23.6) (n = 85) | 10.0 (2.7-49.1) (n = 41) | 2.7 (1.9-17.0) (n = 44) | .045 |
| Relative RAG2 activity (per allele) | 22.1 (9.0-30.8) (n = 26) | 22.1 (22.1-31.2) (n = 8) | 22.1 (2.4-30.8) (n = 18) | .549 |
| History of preceding viral infections | 28 (45.2) (n = 62) | 14 (45.2) (n = 31) | 14 (45.2) (n = 31) | 1.000 |
| Coombs positivity | 57 (87.7) (n = 65) | 31 (96.9) (n = 32) | 26 (78.8) (n = 33) | .054 |
| Other concurrent autoimmunity | 42 (49.4) | 17 (45.9) | 25 (52.1) | .575 |
| Granuloma | 10 (11.8) | 6 (16.2) | 4 (8.3) | .320 |
| Lymphocyte (cells per μL) | 1650 (813-3058) (n = 62) | 1009 (611-2490) (n = 26) | 2120 (1303-3975) (n = 36) | .011 |
| CD3+ (cells per μL) | 454 (197-1161) (n = 77) | 401 (187-697) (n = 32) | 691 (197-1306) (n = 45) | .064 |
| CD4+ (cells per μL) | 172 (87-311) (n = 71) | 150 (82-300) (n = 31) | 202 (101-315) (n = 40) | .480 |
| CD8+ (cells per μL) | 136 (59-360) (n = 68) | 102 (45-180) (n = 31) | 201 (74-673) (n = 37) | .016 |
| CD56+ (cells per μL) | 305 (195-598) (n = 63) | 213 (141-383) (n = 27) | 400 (256-745) (n = 36) | .005 |
| CD19+ (cells per μL) | 87 (29-233) (n = 76) | 113 (44-233) (n = 32) | 81 (21-251) (n = 44) | .296 |
| IgG (mg/dL) | 940 (367-1610) (n = 65) | 973 (400-1705) (n = 29) | 899 (320-1409) (n = 36) | .721 |
| IgA (mg/dL) | 43 (14-105) (n = 54) | 53 (18-123) (n = 25) | 40 (13-94) (n = 29) | .676 |
| IgM (mg/dL) | 128 (38-228) (n = 61) | 109 (38-192) (n = 28) | 128 (36-252) (n = 33) | .728 |
| Allogeneic stem cell transplant | 42 (53.2) (n = 79) | 25 (71.4) (n = 35) | 17 (38.6) (n = 44) | .004 |
| Mortality | 37 (46.8) (n = 79) | 14 (40.0) (n = 35) | 23 (52.3) (n = 44) | .278 |
| Variables (median, IQR; n, %) . | All (n = 85) . | Evans (+) (n = 37) . | Evans (–) (n = 48) . | P value∗ . |
|---|---|---|---|---|
| Age (y) | ||||
| Clinical diagnosis | 1.3 (0.7-2.5) (n = 77) | 1.3 (0.9-3.0) (n = 33) | 1.1 (0.4-2.4) (n = 44) | .117 |
| Molecular diagnosis | 3.0 (1.3-8.0) (n = 77) | 4.0 (1.6-10.5) (n = 32) | 2.8 (1.2-7.3) (n = 45) | .345 |
| Male | 34 (44.7) (n = 76) | 12 (34.3) (n = 35) | 22 (53.7) (n = 41) | .109 |
| Clinical phenotype: CID-G/AI | 36 (42.3) | 18 (48.6) | 18 (37.5) | .302 |
| RAG1 genotype | 71 (83.5) | 33 (89.2) | 38 (79.2) | .253 |
| Relative RAG1 activity (per allele) | 7.2 (2.4-23.6) (n = 85) | 10.0 (2.7-49.1) (n = 41) | 2.7 (1.9-17.0) (n = 44) | .045 |
| Relative RAG2 activity (per allele) | 22.1 (9.0-30.8) (n = 26) | 22.1 (22.1-31.2) (n = 8) | 22.1 (2.4-30.8) (n = 18) | .549 |
| History of preceding viral infections | 28 (45.2) (n = 62) | 14 (45.2) (n = 31) | 14 (45.2) (n = 31) | 1.000 |
| Coombs positivity | 57 (87.7) (n = 65) | 31 (96.9) (n = 32) | 26 (78.8) (n = 33) | .054 |
| Other concurrent autoimmunity | 42 (49.4) | 17 (45.9) | 25 (52.1) | .575 |
| Granuloma | 10 (11.8) | 6 (16.2) | 4 (8.3) | .320 |
| Lymphocyte (cells per μL) | 1650 (813-3058) (n = 62) | 1009 (611-2490) (n = 26) | 2120 (1303-3975) (n = 36) | .011 |
| CD3+ (cells per μL) | 454 (197-1161) (n = 77) | 401 (187-697) (n = 32) | 691 (197-1306) (n = 45) | .064 |
| CD4+ (cells per μL) | 172 (87-311) (n = 71) | 150 (82-300) (n = 31) | 202 (101-315) (n = 40) | .480 |
| CD8+ (cells per μL) | 136 (59-360) (n = 68) | 102 (45-180) (n = 31) | 201 (74-673) (n = 37) | .016 |
| CD56+ (cells per μL) | 305 (195-598) (n = 63) | 213 (141-383) (n = 27) | 400 (256-745) (n = 36) | .005 |
| CD19+ (cells per μL) | 87 (29-233) (n = 76) | 113 (44-233) (n = 32) | 81 (21-251) (n = 44) | .296 |
| IgG (mg/dL) | 940 (367-1610) (n = 65) | 973 (400-1705) (n = 29) | 899 (320-1409) (n = 36) | .721 |
| IgA (mg/dL) | 43 (14-105) (n = 54) | 53 (18-123) (n = 25) | 40 (13-94) (n = 29) | .676 |
| IgM (mg/dL) | 128 (38-228) (n = 61) | 109 (38-192) (n = 28) | 128 (36-252) (n = 33) | .728 |
| Allogeneic stem cell transplant | 42 (53.2) (n = 79) | 25 (71.4) (n = 35) | 17 (38.6) (n = 44) | .004 |
| Mortality | 37 (46.8) (n = 79) | 14 (40.0) (n = 35) | 23 (52.3) (n = 44) | .278 |
IQR, interquartile range.
Comparison between patients with and without Evans syndrome, with statistical significance indicated in bold.