Clinical and laboratory features of 21 autoimmune lymphoproliferative syndrome patients
| Family* . | Race . | Gender . | Age (y) . | Age of onset . | Fas mutant . | LN size (1 to 4+)† . | Splenomegaly/ splenectomy . | α/β DNTCs (%) (no./μL3)‡ . | Serum IgG (mg/dL)1-153 . | Serum IL-10 (pg/mL) . | Autoantibodies . | Autoimmunity . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | W | M | 11 | 4 m | Y | 3+ | Y/Y | 1615 (14) | 1480 | 1761 | + | ITP |
| 2 | W | F | 12 | 18 m | Y | 4+ | Y/Y | 2144 (20) | 4020 | 719 | + | ITP, GN, PBC |
| 3 | W | M | 16 | 5 y | Y | 2+ | Y/N | 517 (8) | 1690 | 199 | + | AIHA, ITP, AIN |
| 3 | W | M | 17 | 9 y | Y | 2+ | Y/Y | 44 (2) | 1110 | 26 | + | ND |
| 3 | W | M | 41 | 3 y | Y | 2+ | Y/Y | 233 (6) | 1930 | 30 | + | AIHA, ITP |
| 4 | W | M | 14 | 2 y | Y | 3+ | Y/N | 50 (2) | 1870 | 683 | NT | ND |
| 6 | B | F | 6 | 4 m | Y | 4+ | Y/N | 1566 (13) | 780 | 467 | + | AIHA |
| 14 | W | F | 16 | 9 m | N | 4+ | Y/Y | 1067 (17) | 2090 | 295 | + | AIHA |
| 17 | W | F | 26 | 4 m | Y | 4+ | Y/Y | 395 (11) | 1380 | 135 | + | AIHA, AIN |
| 17 | W | M | 29 | 5 y | Y | 2+ | Y/Y | 93 (3) | 1200 | 39 | NT | AIN |
| 20 | W | F | 15 | 3 y | Y | 2+ | Y/N | 88 (5) | 1650 | 212 | + | GB |
| 24 | W | M | 8 | 11 m | Y | 3+ | Y/Y | 790 (18) | 2790 | 224 | NT | ITP |
| 26 | W | M | 16 | 1 m | Y | 3+ | Y/N | 367 (20) | 4910 | 1025 | + | ND |
| 26 | W | F | 37 | 5 y | Y | 2+ | Y/N | 245 (10) | 3340 | 104 | NT | ND |
| 27 | W | M | 10 | 5 y | Y | 2+ | Y/Y | 640 (8) | 1530 | 174 | + | ND |
| 30 | W | M | 9 | 12 m | Y | 1+ | Y/Y | 557 (17) | 2140 | 160 | + | AIHA, ITP, AIN, GN |
| 31 | W | F | 16 | 5 y | Y | 2+ | Y/Y | 2105 (36) | 1890 | 9 | + | AIHA, ITP, AIN |
| 31 | W | M | 37 | 18 m | Y | 1+ | Y/Y | 87 (3) | 1120 | 166 | + | ND |
| 31 | W | F | 41 | 2 y | Y | 1+ | Y/Y | 106 (4) | 1460 | 12 | + | ITP, AIN |
| 34 | W | M | 6 | 2 y | Y | 2+ | Y/N | 196 (5) | ND | 73 | + | AIHA |
| 45 | W | M | 11 | 4 y | Y | 3+ | Y/Y | 1137 (12) | 1590 | 135 | + | ITP |
| Family* . | Race . | Gender . | Age (y) . | Age of onset . | Fas mutant . | LN size (1 to 4+)† . | Splenomegaly/ splenectomy . | α/β DNTCs (%) (no./μL3)‡ . | Serum IgG (mg/dL)1-153 . | Serum IL-10 (pg/mL) . | Autoantibodies . | Autoimmunity . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | W | M | 11 | 4 m | Y | 3+ | Y/Y | 1615 (14) | 1480 | 1761 | + | ITP |
| 2 | W | F | 12 | 18 m | Y | 4+ | Y/Y | 2144 (20) | 4020 | 719 | + | ITP, GN, PBC |
| 3 | W | M | 16 | 5 y | Y | 2+ | Y/N | 517 (8) | 1690 | 199 | + | AIHA, ITP, AIN |
| 3 | W | M | 17 | 9 y | Y | 2+ | Y/Y | 44 (2) | 1110 | 26 | + | ND |
| 3 | W | M | 41 | 3 y | Y | 2+ | Y/Y | 233 (6) | 1930 | 30 | + | AIHA, ITP |
| 4 | W | M | 14 | 2 y | Y | 3+ | Y/N | 50 (2) | 1870 | 683 | NT | ND |
| 6 | B | F | 6 | 4 m | Y | 4+ | Y/N | 1566 (13) | 780 | 467 | + | AIHA |
| 14 | W | F | 16 | 9 m | N | 4+ | Y/Y | 1067 (17) | 2090 | 295 | + | AIHA |
| 17 | W | F | 26 | 4 m | Y | 4+ | Y/Y | 395 (11) | 1380 | 135 | + | AIHA, AIN |
| 17 | W | M | 29 | 5 y | Y | 2+ | Y/Y | 93 (3) | 1200 | 39 | NT | AIN |
| 20 | W | F | 15 | 3 y | Y | 2+ | Y/N | 88 (5) | 1650 | 212 | + | GB |
| 24 | W | M | 8 | 11 m | Y | 3+ | Y/Y | 790 (18) | 2790 | 224 | NT | ITP |
| 26 | W | M | 16 | 1 m | Y | 3+ | Y/N | 367 (20) | 4910 | 1025 | + | ND |
| 26 | W | F | 37 | 5 y | Y | 2+ | Y/N | 245 (10) | 3340 | 104 | NT | ND |
| 27 | W | M | 10 | 5 y | Y | 2+ | Y/Y | 640 (8) | 1530 | 174 | + | ND |
| 30 | W | M | 9 | 12 m | Y | 1+ | Y/Y | 557 (17) | 2140 | 160 | + | AIHA, ITP, AIN, GN |
| 31 | W | F | 16 | 5 y | Y | 2+ | Y/Y | 2105 (36) | 1890 | 9 | + | AIHA, ITP, AIN |
| 31 | W | M | 37 | 18 m | Y | 1+ | Y/Y | 87 (3) | 1120 | 166 | + | ND |
| 31 | W | F | 41 | 2 y | Y | 1+ | Y/Y | 106 (4) | 1460 | 12 | + | ITP, AIN |
| 34 | W | M | 6 | 2 y | Y | 2+ | Y/N | 196 (5) | ND | 73 | + | AIHA |
| 45 | W | M | 11 | 4 y | Y | 3+ | Y/Y | 1137 (12) | 1590 | 135 | + | ITP |
LN indicates lymph node; DNTCs, double-negative T cells; IgG, immunoglobulin G; IL-10, interleukin-10; ITP, idiopathic thrombocytopenic purpura; GN, glomerulonephritis; PBC, primary biliary cirrhosis; AIHA, autoimmune hemolytic anemia; AIN, autoimmune neutropenia; ND, none documented; NT, not tested; GB, Guillain-Barre.
The number refers to the family in the NIH ALPS research cohort from whom samples were available for this study.
Lymph node sizes as defined in reference 2.
Normal range of 0 to 18 cells/μL3, or less than 1% of all lymphocytes.
Normal range of 523 to 1482 μg/dL.