Table 4.
Clinical/immunological characteristics of patients without genetic variant (abnormal results in bold).
| Pt, sex | Type of cytopenia | Clinical phenotype | Age (years) at diagnosis | Other clinical signs | Other abnormal immunological features | Lymphocyte subpopulations | ALPS cytokines | Immunoglobulin levels | Status | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L tot(/mmc) | T(%) | B (%) | NK(%) | DNT (%) | IL 10 (pg/mL) | IL18(pg/mL) | Vit B12 (ng/L) | IgG(mg/dL) | IgA(mg/dL) | IgM(mg/dL) | |||||||
| 1, M | ITP, AIHA, AIN | ALPS | 1,5 | LPR | ANA | 690 | 69 | 20 | 10.1 | 15 | 0 | 550 | 684 | 1,616 | 91 | 212 | Alive |
| 2, F | ITP, AIHA | ALPS-LIKE | 6,8 | LPR | No | 490 | 87 | 6 | 5 | 1 | 0.9 | 925 | 378 | 834 | 105 | 50 | Dead |
| 3, F | ITP, AIHA | ALPS-LIKE | 11,6 | TTP | ANA | 2,215 | 63 | 16 | 18 | 1 | 0 | 0 | 0 | 904 | 176 | 101 | Alive |
| 4, F | ITP, AIHA | ALPS-LIKE | 0,3 | No | No | 1,785 | 81 | 0.2 | 6 | 3 | 1.3 | 280 | 361 | 839 | 13 | 4 | Alive |
| 5, M | ITP, AIHA | / | 16,6 | No | No | 2,900 | 88 | 3 | 0 | 0.3 | 0 | 0 | 0 | 1,275 | 301 | 400 | Alive |
| 6, F | ITP, AIHA, AIN | ALPS-LIKE | 5,3 | LPR | ANA, ASMA | 4,190 | 87 | 1 | 11 | 0.6 | 0 | 0 | 0 | 1,213 | 519 | 232 | Alive |
| 7, M | ITP, AIHA | ALPS-LIKE | 6,8 | No | ANA, LAC, ANCA, ENA, anti-dsDNA ab |
750 | 67 | 17 | 14 | 3 | 13.2 | 375 | 0 | 546 | 62 | 25 | Alive |
| 8, M | ITP, AIHA | ALPS | 11,6 | LPR | Erythema nodosum | 1,050 | 76 | 16 | 0 | 2 | 3 | 2,000 | 0 | 467 | 47 | 17 | Alive |
| 9, F | ITP, AIHA | ALPS | 10,3 | LPR | ANA, ENA, anti-dsDNA, anti-C3d, LAC, anti-Ro/SSA | 1,270 | 84 | 10 | 5 | 3 | 0 | 705 | 283 | 1,412 | 163 | 107 | Alive |
| 10, M | ITP, AIN AIHA | ALPS-LIKE | 15,3 | No | ANA | 1,580 | 83 | 7 | 10 | 3 | 0 | 0 | 0 | 1,229 | 220 | 67 | Alive |
| 11, F | ITP, AIHA | ALPS-LIKE | 0,3 | LPR | No | Na | Na | Na | Na | 3 | 0 | 0 | 927 | Na | Na | Na | Alive |
| 12, M | ITP, AIN | ALPS-LIKE | 8,8 | No | Anti-N ab, anti-TG, anti TPO, DAT | 1,400 | 66 | 12 | 19 | 2.4 | 0.9 | 200 | 669 | 921 | 107 | 47 | Alive |
| 13, M | ITP, AIN | ALPS | 1,2 | LPR | No | 1,300 | 79 | 4 | 16 | 2 | 3.5 | 2,150 | 430 | 1,248 | 630 | 68 | Alive |
| 14, M | ITP, AIN | ALPS | 14,9 | LPR BMF |
ANA, ENA, ASMA, CD | 850 | 64 | 16 | 19 | 2 | 305 | 360 | 725 | 1,534 | 376 | 62 | Alive |
| 15, M | ITP, AIN | ALPS LIKE | 10 | LPR arthralgia |
No | 1,500 | 78 | 19 | 2 | 2 | 1.3 | 640 | 0 | 625 | 167 | 42 | Alive |
| 16, M | ITP, AIN | ALPS | 11,2 | LPR | DAT | 780 | 69 | 18 | 12 | 4 | 3 | 660 | 356 | 820 | 33 | 87 | Alive |
| 17, M | ITP, AIN | ALPS LIKE | 2,2 | LPR | DAT | 2,600 | 58 | 29 | 11 | 0 | 13 | 600 | 641 | 694 | 21 | 54 | Alive |
| 18, M | ITP, AIN | ALPS LIKE | 14,8 | LPR, recurrent fevers | ENA | 770 | 83 | 8 | 7 | 4.6 | 2 | 600 | 274 | 2,506 | 228 | 174 | Alive |
| 19, M | ITP, AIN | ALPS LIKE | 14,2 | No | No | 1,580 | 80 | 17 | 1.5 | 1.3 | 3 | 300 | 484 | 898 | 214 | 158 | Alive |
| 20, M | ITP, AIN | ALPS LIKE | 7,6 | LPR | DAT | 1,890 | 82 | 12 | 3.6 | 2.6 | Na | Na | 1,694 | 1,457 | 36 | 143 | Alive |
| 21, M | AIHA, AIN | ALPS LIKE | 6 | LPR recurrent fevers, arthralgia, rash | ASMA, ASCA | 1,190 | 73 | 12 | 13 | 3.4 | Na | 275 | Na | 2,416 | 286 | 236 | Alive |
| 22, F | AIHA, AIN | ALPS | 12,6 | No | ANA, anti-C3d, anti-dsDNA, SLE, Hashimoto’s thyroiditis | 600 | 85 | 6 | 7 | 3.9 | 3.2 | 421 | 655 | 1,075 | 205 | 45 | Alive |
anti-dsDNA ab, anti-double-stranded DNA antibodies; anti-N ab, anti-neutrophil antibodies; AIHA, autoimmune haemolytic anaemia; AIN, autoimmune neutropenia; ANA, antinuclear antibodies; ANCA, anti-neutrophil cytoplasmic antibodies; ASCA, anti-Saccharomyces cerevisiae antibodies; ASMA, anti-smooth muscle antibodies; B, benign; BMF, bone marrow failure; CD, celiac disease; DAT, direct antiglobulin test; DNT, double-negative T cells; ENA, extractable nuclear antigen antibodies; ITP, immune thrombocytopenia; LAC, lupus anti-coagulant; LPR, lymphoproliferation (chronic, >6 months, non-malignant, non-infectious lymphadenopathy or splenomegaly or both); MAS, macrophage activation syndrome; Na, not available; SLE, systemic lupus erythematosus; Tg, thyroglobulin; TPO, thyroid peroxidase; TTP, thrombotic thrombocytopenic purpura.