Clinical and laboratory features of RALD patients
| Patient . | Gender . | Age, y . | Age of onset, y . | RAS mutations . | Absolute monocyte count (1000/μL) . | CD20+ absolute counts . | IgG (mg/dL) . | Direct antiglobulin test . | Lupus anticoagulant . | Other autoantibodies . | Flow cytometry monocyte subpopulations . | Flow cytometry granulocyte subpopulations . | Flow cytometry CD10+ circulating B cells . | Cyto-genetic analysis . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 104.1 | F | 20 | 1 | KRAS c.38 G>A; p.G13D | 49.4 | 53 | 2450 | Positive | Negative | ACA, ANA | CD16+ | CD14+ (pelgeroid morphology) | No | Normal |
| 381.1 | F | 10 | 4 | KRAS c.37 G>T; p.G13C | 2.1 | 559 | 1410 | Positive | Positive | ANA | CD16+ | CD14+ (pelgeroid morphology) | Yes | Normal |
| 85.1*† | F | 13 | 4 | KRAS c.37 G>T; p.G13C | 1.5 | 642 | 2130 | Negative | N.D. | ACA, anti-neutrophil, anti-platelet | N.D. | N.D. | N.D. | N.D. |
| 337.1 | F | 12 | 5 | KRAS c.38 G>A; p.G12D | 1.9 | 497 | 2220 | Negative | Positive | ACA, ANA | CD16+ | CD14+ | Yes | Normal |
| 380.1 | F | 41 | 36 | KRAS c.35 G>C; p.G12A | 10 | 1799 | 1430 | Positive | Positive | ANA | CD16+, CD56+, CD10+ | CD14+ | Yes | Normal |
| 379.1 | M | 13 | 3 | KRAS c.34 G>A; p.G12S | 1.8 | 452 | 1610 | Positive | Negative | ACA, ANA | No atypia | CD14+ | No | Normal |
| 411.1† | F | 12 | 2 | KRAS c.37 G>T; p.G13C | 1.5 | 2466 | 1370 | Positive | Positive | Negative | CD16+ | CD14+ | No | N.D. |
| 336.1 | M | 5 | 0.25 | NRAS c.35G>T; p.G12V | 14.3 | 2541 | 1570 | N.D. | N.D. | N.D. | CD13– | No atypia | Yes | N.D. |
| 260.1 | M | 6 | 0.25 | NRAS c.38 G>A; p.G13D | 4.8 | 3527 | 2100 | Positive | Negative | ACA, ANA | CD16+ | CD14+ | Yes | Normal |
| 265.1 | M | 9 | 0.25 | NRAS c.38 G>A; p.G13D | 2.1 | 425 | 2750 | Positive | Positive | Glomerulonephritis | CD16+ | No atypia | Yes | Normal |
| 58.1 | M | 57 | 0.5 | NRAS c.38 G>A; p.G13D | 3.7 | 4301 | 1310 | Positive | Positive | ACA | CD16+ | No atypia | Yes | Normal |
| 163.1 | M | 19 | 2 | NRAS c.38 G>A; p.G13D | 3.7 | 743 | 2190 | Positive | Positive | ACA, ANA | CD16+ | No atypia | No | N.D. |
| 406.1 | M | 5 | 0.75 | NRAS c.34GA; p. G12S | 4.2 | N.D. | 1030 | N.D. | N.D. | N.D. | N.D. | N.D. | N.D. | N.D. |
| Patient . | Gender . | Age, y . | Age of onset, y . | RAS mutations . | Absolute monocyte count (1000/μL) . | CD20+ absolute counts . | IgG (mg/dL) . | Direct antiglobulin test . | Lupus anticoagulant . | Other autoantibodies . | Flow cytometry monocyte subpopulations . | Flow cytometry granulocyte subpopulations . | Flow cytometry CD10+ circulating B cells . | Cyto-genetic analysis . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 104.1 | F | 20 | 1 | KRAS c.38 G>A; p.G13D | 49.4 | 53 | 2450 | Positive | Negative | ACA, ANA | CD16+ | CD14+ (pelgeroid morphology) | No | Normal |
| 381.1 | F | 10 | 4 | KRAS c.37 G>T; p.G13C | 2.1 | 559 | 1410 | Positive | Positive | ANA | CD16+ | CD14+ (pelgeroid morphology) | Yes | Normal |
| 85.1*† | F | 13 | 4 | KRAS c.37 G>T; p.G13C | 1.5 | 642 | 2130 | Negative | N.D. | ACA, anti-neutrophil, anti-platelet | N.D. | N.D. | N.D. | N.D. |
| 337.1 | F | 12 | 5 | KRAS c.38 G>A; p.G12D | 1.9 | 497 | 2220 | Negative | Positive | ACA, ANA | CD16+ | CD14+ | Yes | Normal |
| 380.1 | F | 41 | 36 | KRAS c.35 G>C; p.G12A | 10 | 1799 | 1430 | Positive | Positive | ANA | CD16+, CD56+, CD10+ | CD14+ | Yes | Normal |
| 379.1 | M | 13 | 3 | KRAS c.34 G>A; p.G12S | 1.8 | 452 | 1610 | Positive | Negative | ACA, ANA | No atypia | CD14+ | No | Normal |
| 411.1† | F | 12 | 2 | KRAS c.37 G>T; p.G13C | 1.5 | 2466 | 1370 | Positive | Positive | Negative | CD16+ | CD14+ | No | N.D. |
| 336.1 | M | 5 | 0.25 | NRAS c.35G>T; p.G12V | 14.3 | 2541 | 1570 | N.D. | N.D. | N.D. | CD13– | No atypia | Yes | N.D. |
| 260.1 | M | 6 | 0.25 | NRAS c.38 G>A; p.G13D | 4.8 | 3527 | 2100 | Positive | Negative | ACA, ANA | CD16+ | CD14+ | Yes | Normal |
| 265.1 | M | 9 | 0.25 | NRAS c.38 G>A; p.G13D | 2.1 | 425 | 2750 | Positive | Positive | Glomerulonephritis | CD16+ | No atypia | Yes | Normal |
| 58.1 | M | 57 | 0.5 | NRAS c.38 G>A; p.G13D | 3.7 | 4301 | 1310 | Positive | Positive | ACA | CD16+ | No atypia | Yes | Normal |
| 163.1 | M | 19 | 2 | NRAS c.38 G>A; p.G13D | 3.7 | 743 | 2190 | Positive | Positive | ACA, ANA | CD16+ | No atypia | No | N.D. |
| 406.1 | M | 5 | 0.75 | NRAS c.34GA; p. G12S | 4.2 | N.D. | 1030 | N.D. | N.D. | N.D. | N.D. | N.D. | N.D. | N.D. |
Peripheral blood reference ranges (adult): absolute monocyte count 0.30 to 0.82 1000 cells per microliter; absolute CD20+ count 59 to 329 cells per microliter; serum immunoglobulin G (IgG), 572 to 1474 mg/dL.
ACA, anticardiolipin antibodies (positive: ACA IgG 18 to 80 IgG phospholipid units and ACA IgM >16 IgM phospholipid units); ANA, antinuclear antibodies (normal, 0 to 0.9 enzyme-linked immunosorbent assay units); F, female; M, male; N.D., not determined.
Deceased, no infectious or malignant neoplastic disease noted at autopsy.
Pericarditis.