Table 1.
Demographic and clinical features of the 30 DADA2 patients before HCT
| Patient ID | Sex/Ethnicity | Age at disease onset (y) | Age at genetic diagnosis (y) | DADA2 clinical manifestations | CD4, CD8, CD19, CD56 | IgG | IgA | IgM | Previous treatment | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| P1* | M, Caucasian | 0.5 | 5 | RCA, pancytopenia, splenomegaly, recurrent infections, LAP | 653, 93, 11, 0.5 | 997 | 2.4 | 7 | Prednisone, sirolimus, tacrolimus, IVIG | [5, 19, 21] |
| P2 | F, Tunisian | 7 | 28 | PRCA, stroke, EBV viremia, livedo, splenomegaly, aphthous ulcers | 370,84, 60, 48 | 1700 | 60 | 310 | Prednisone, everolimus, hydroxychloroquine, IVIG | [9] |
| P3 | F, Turkish | 1 | 3 | PRCA | 1460, 690, NA, 255 | 1200 | 77 | 77 | Prednisone | [24] |
| P4 | M, Turkish | 11 | 22 | PRCA, HSM, MDS-RCMD, recurrent infections, FTT | NA | 682 | 50 | 61 | Prednisone | [24] |
| P5 | M, Caucasian | 0.3 | 9 | PRCA, splenomegaly, IBD, recurrent fevers, aphthous ulcers | 607, 781, 685, 90 | 290 | 119 | 9 | Prednisone, anakinra | [21] |
| P6 | M, Caucasian | 0 | 15 | Neutropenia, HSM, LAP, livedo, strabismus, PAN, neuropathy | 1239, 714, 116, 339 | 1021 | 77 | 149 | Prednisone, etanercept, adalimumab, CsA, GCSF | |
| P7 | M, Caucasian | 2 | 22 | Anemia, lymphopenia, HSM, livedo, ICH, optic nerve atrophy, PAN | 50, 50, 1, 10 | 465 | 47 | 17 | Prednisone, azathioprine, infliximab, FFP, IVIG | [21] |
| P8 | M, Caucasian | 0 | 2 | PRCA, LAP, HSM, recurrent infections, liver fibrosis | 1763, 1037, 415, 104 | 426 | < 8 | < 6 | Prednisone, IVIG | [21] |
| P9 | F, Caucasian | 2.5 | 4 | RCA, pancytopenia, livedo, epilepsy, T-LGL, HSM, aphthous ulcer | 386, 257, NA, NA | 1000 | NA | 74 | Prednisone | [7, 21] |
| P10 | F, Caucasian | 7 | 11 | RCA, pancytopenia, AIHA, splenomegaly, ICH, livedo, arthritis | 528, 211, 26, 30 | 816 | < 26 | 25 | Prednisone, MTX, infliximab, IVIG | [21] |
| P11 | F, Caucasian | 1 | 26 | Pancytopenia, HSM, recurrent infections, PAN, bronchiectasis | 183, 108, 0, 2 | 700 | 42 | 33 | Prednisone, azathioprine, daratumumab, etanercept, CsA, rituximab, IVIG, GCSF | |
| P12* | M, Caucasian | 0.4 | 4 | Anemia, neutropenia, HSM, LAP, IBD, SAH, TIA, recurrent infections | 599, 278, 228, 147 | 436 | 17 | 54 | Prednisone, azathioprine, sirolimus, etanercept, IVIG | [21] |
| P13 | M, Caucasian | 4 | 4 | RCA, pancytopenia, FTT, fevers, arthralgia | 1926, 2005, 1, 74 | 1000 | 16 | 10 | Prednisone, etanercept, eltrombopag, infliximab, rituximab, IVIG | |
| P14 | F, Caucasian | 12 | 13 | Neutropenia, lymphopenia, recurrent infections, aphthous ulcers | 190, 172, 26, 35 | 730 | 81 | 27 | Etanercept | |
| P15 | M, Caucasian | 3 | 4 | PRCA, HSM, alopecia, recurrent fevers, strabismus, aphthous ulcers | 814, 459, 104, 60 | 605 | 40 | < 6 | Prednisone, MMF, CsA, sirolimus, IVIG, GCSF | [4, 21] |
| P16 | M, Caucasian | 0.1 | 13 | SAA, HSM, livedo, IDDM, GHD, hypothyroidism | 1610, 940, 1250, 1040 | 360 | 60 | 30 | None | [20, 21] |
| P17 | F, Caucasian | 0.3 | 6 | PRCA, splenomegaly, recurrent infections, livedo, arthritis, T-LGL | NA | 760 | 116 | 52 | Prednisone, etanercept | |
| P18 | M, Caucasian | 0.2 | 6 | RCA, neutropenia, HSM, LAP, portal HTN, hepatoportal sclerosis/fibrosis, recurrent infections | 154, 280, 225, 224 | 883 | 88 | 60 | Prednisone, etanercept, GCSF | |
| P19 | M, Hispanic | 14 | 15 | Neutropenia, HSM, NRH | 185, 310, 38, 26 | 1247 | 20 | 6 | Adalimumab, IVIG, GCSF | |
| P20 | F, Caucasian | 16 | 25 | Neutropenia, HSM, recurrent infections, lymphoproliferation | 1670, 1721, 106, 101 | NA | NA | NA | Prednisone, ATG, GCSF | [21] |
| P21 | F, Black | 12 | 12 | Anemia, neutropenia, LAP, HSM, recurrent infections, EBV, bronchiectasis, DLBCL | 170, 176, 127, 83 | 580 | 49 | 31 | Prednisone, rituximab, DLBCL-type chemotherapy | [25] |
| P22 | F, Hispanic | 7 | 21 | Neutropenia, recurrent infections | 361, 262, 0, 32 | NA | NA | NA | Prednisone, IVIG, GCSF | [21, 27] |
| P23 | F, Caucasian | 3 | 5 | ALPS-like, recurrent infections, neutropenia, splenomegaly, livedo | 976, 738, 596, 263 | 2950 | 348 | 25 | Prednisone, sirolimus, MMF, CsA, GCSF | [23] |
| P24 | F, Algerian | 6 | NA | Neutropenia, AIHA, HSM, recurrent infections, livedo | 1208, 1779, 34, 134 | 225 | 2 | 37 | Prednisone, etanercept, sirolimus, rituximab, IVIG | |
| P25 | F, Turkish | 0.3 | 2 | PRCA, HSM, recurrent infections, livedo | 960, 980, 756, 142 | 1000 | 109 | 36 | Prednisone | [24] |
| P26 | F, Caucasian | 2 | 22 | Neutropenia, stroke, T-LGL, recurrent infections, splenomegaly, livedo | 590, 1450, 121, 6 | 487 | 55 | 394 | Prednisone, etanercept, hydroxychloroquine | |
| P27 | F, Caucasian | 1 | 9 | Pancytopenia, stroke, ICH, livedo, arthritis, AML, HSM, HTN, CMP | 273, 222, 23, 29 | 354 | 34 | 9 | Prednisone, etanercept, anakinra, azathioprine, IVIG | [21, 26] |
| P28 | F, Caucasian | 14 | 15 | RCA, neutropenia | 441, 276, 43, 35 | 499 | 11 | 15 | Prednisone, IVIG | [21] |
| P29* | M, Hispanic | 0 | 18 | PRCA, aphthous ulcers, moderate liver siderosis, hepatitis | NA | NA | NA | NA | Prednisone | [21] |
| P30* | F, Hispanic | 13 | 14 | RCA, neutropenia, liver fibrosis, recurrent warts, livedo | 588, 416, 176, 25 | 625 | 86 | 10 | Adalimumab, IVIG |
*Siblings (1 + 12 and 29 + 30); bold font indicates low values for age. Patients are arranged per donor then age. AIHA autoimmune hemolytic anemia, ATG antithymocyte globulin, CMP cardiomyopathy, CsA cyclosporine A, DLBCL diffuse large B cell lymphoma, F female, FFP fresh frozen plasma, GCSF granulocyte colony stimulating factor, GHD growth hormone deficiency, HSM hepatosplenomegaly, HTN hypertension, ICH intracranial hemorrhage, IBD inflammatory bowel disease, IDDM insulin-dependent diabetes mellitus, LAP lymphadenopathy, LGL large granular lymphocyte leukemia, M male, MDS-RCMD myelodysplastic syndrome-refractory cytopenia with multilineage dysplasia, MMF mycophenolate mofetil, NRH liver nodular regenerative hyperplasia, PAN polyarteritis nodosa, PRCA pure red cell aplasia, RCA red cell aplasia, SAH subarachnoid hemorrhage, TIA transient ischemic attack, URI upper respiratory infection, y year. Lymphocyte subsets (n x 106/L). IgG, IgA, IgM (mg/dL)