Demographic and clinical features of the 14 DADA2 patients before HSCT
| Patient ID . | Sex/ethnicity . | Age at disease onset (y) . | Age at genetic diagnosis (y) . | DADA2 clinical manifestations . | CD4, CD8, CD19, CD56 (n × 106/L) . | IgG (mg/dL) . | IgA (mg/dL) . | IgM (mg/dL) . | Previous treatment . | Reference . |
|---|---|---|---|---|---|---|---|---|---|---|
| P001 | M, white | 3 | 4 | PRCA, HSM, alopecia, strabismus, recurrent fevers, aphthous ulcers | 814, 459, 104, 60 | 605 | 40 | <6 | Prednisone, MMF, sirolimus, CsA | 6, 21 |
| P002 | F, Hispanic | 7 | 21 | Recurrent infections, ID | 361, 262, 0, 32 | NA | NA | NA | Prednisone | 20 |
| P003 | F, white | 7 | 11 | Splenomegaly, ICH, livedo, arthritis | 528, 211, 26, 30 | NA | NA | NA | Infliximab | |
| P004 | F, white | 1 | 9 | Pancytopenia, stroke, ICH, vasculitis, arthritis, HSM, HTN, CMP, ID | 273, 222, 23, 29 | 354 | 34 | 9 | Prednisone, etanercept, anakinra, azathioprine | 19 |
| P005 | M, white | 0 | 2 | PRCA, LNP, HSM, recurrent infections | 1763, 1037, 415, 104 | 426 | <8 | <6 | Prednisone | |
| P006 | F, white | 14 | 15 | PRCA, neutropenia | 441, 276, 43, 35 | 499 | 11 | 15 | Prednisone | |
| P007 | M, white | 0.5 | 13 | PRCA, neutropenia, SAA, HSM, livedo, IDDM, GHD | NA | 360 | 60 | 30 | None | 17 |
| P008* | M, white | 0.5 | 5 | PRCA, pancytopenia, splenomegaly, recurrent infections, LNP | 653, 93, 11, 0.5 | 997 | 2.4 | 7 | Prednisone, sirolimus, tacrolimus | 16, 18 |
| P009* | M, white | 0.4 | 4 | Anemia, neutropenia, HSM, LNP, IBD, SAH, TIA, recurrent infections | 599, 278, 228, 147 | 436 | 17 | 54 | Prednisone, azathioprine, sirolimus, etanercept | |
| P010 | M, white | 2 | 22 | Anemia, lymphopenia, HSM, Livedo, ICH, HTN, optic nerve atrophy, PAN | 50, 50, 1, 10 | 465 | 47 | 17 | Prednisone, azathioprine, infliximab | |
| P011 | F, white | 2.5 | 4 | PRCA, vasculitis, pancytopenia, epilepsy, HSM, aphthous ulcers | 386, 257, 237, 41 | 1000 | 2.4 | 74 | Prednisone | |
| P012 | F, white | 16 | 25 | ITP, HSM, lymphoproliferation, recurrent infections, lung granuloma | 1670, 1721, 106, 101 | NA | NA | NA | Prednisone, ATG | |
| P013 | M, white | 0.3 | 9 | PRCA, neutropenia, splenomegaly, IBD, recurrent fevers, aphthous ulcers | 607, 781, 685, 90 | 290 | 119 | 9 | Prednisone, anakinra | |
| P014 | M, Hispanic | 0 | 18 | PRCA, hepatopathy, aphthous ulcers | NA | NA | NA | NA | Prednisone |
| Patient ID . | Sex/ethnicity . | Age at disease onset (y) . | Age at genetic diagnosis (y) . | DADA2 clinical manifestations . | CD4, CD8, CD19, CD56 (n × 106/L) . | IgG (mg/dL) . | IgA (mg/dL) . | IgM (mg/dL) . | Previous treatment . | Reference . |
|---|---|---|---|---|---|---|---|---|---|---|
| P001 | M, white | 3 | 4 | PRCA, HSM, alopecia, strabismus, recurrent fevers, aphthous ulcers | 814, 459, 104, 60 | 605 | 40 | <6 | Prednisone, MMF, sirolimus, CsA | 6, 21 |
| P002 | F, Hispanic | 7 | 21 | Recurrent infections, ID | 361, 262, 0, 32 | NA | NA | NA | Prednisone | 20 |
| P003 | F, white | 7 | 11 | Splenomegaly, ICH, livedo, arthritis | 528, 211, 26, 30 | NA | NA | NA | Infliximab | |
| P004 | F, white | 1 | 9 | Pancytopenia, stroke, ICH, vasculitis, arthritis, HSM, HTN, CMP, ID | 273, 222, 23, 29 | 354 | 34 | 9 | Prednisone, etanercept, anakinra, azathioprine | 19 |
| P005 | M, white | 0 | 2 | PRCA, LNP, HSM, recurrent infections | 1763, 1037, 415, 104 | 426 | <8 | <6 | Prednisone | |
| P006 | F, white | 14 | 15 | PRCA, neutropenia | 441, 276, 43, 35 | 499 | 11 | 15 | Prednisone | |
| P007 | M, white | 0.5 | 13 | PRCA, neutropenia, SAA, HSM, livedo, IDDM, GHD | NA | 360 | 60 | 30 | None | 17 |
| P008* | M, white | 0.5 | 5 | PRCA, pancytopenia, splenomegaly, recurrent infections, LNP | 653, 93, 11, 0.5 | 997 | 2.4 | 7 | Prednisone, sirolimus, tacrolimus | 16, 18 |
| P009* | M, white | 0.4 | 4 | Anemia, neutropenia, HSM, LNP, IBD, SAH, TIA, recurrent infections | 599, 278, 228, 147 | 436 | 17 | 54 | Prednisone, azathioprine, sirolimus, etanercept | |
| P010 | M, white | 2 | 22 | Anemia, lymphopenia, HSM, Livedo, ICH, HTN, optic nerve atrophy, PAN | 50, 50, 1, 10 | 465 | 47 | 17 | Prednisone, azathioprine, infliximab | |
| P011 | F, white | 2.5 | 4 | PRCA, vasculitis, pancytopenia, epilepsy, HSM, aphthous ulcers | 386, 257, 237, 41 | 1000 | 2.4 | 74 | Prednisone | |
| P012 | F, white | 16 | 25 | ITP, HSM, lymphoproliferation, recurrent infections, lung granuloma | 1670, 1721, 106, 101 | NA | NA | NA | Prednisone, ATG | |
| P013 | M, white | 0.3 | 9 | PRCA, neutropenia, splenomegaly, IBD, recurrent fevers, aphthous ulcers | 607, 781, 685, 90 | 290 | 119 | 9 | Prednisone, anakinra | |
| P014 | M, Hispanic | 0 | 18 | PRCA, hepatopathy, aphthous ulcers | NA | NA | NA | NA | Prednisone |
Bold font indicates low values for age.
ATG, antithymocyte globulin; CMP, cardiomyopathy; CsA, cyclosporine A; F, female; GHD, growth hormone deficiency; HSM, hepatosplenomegaly; HTN, hypertension; ICH, intracranial hemorrhage; IBD, inflammatory bowel disease; ID, immunodeficiency; IDDM, insulin dependent diabetes mellitus; LNP, lymphadenopathy; M, male; MMF, mycophenolate mofetil; NA, not available; PAN, polyarteritis nodosa; SAH: subarachnoid hemorrhage; TIA: transient ischemic attack.
Siblings.