Laboratory characteristics of 2 siblings with a homozygous MYSM1 mutation and comparison with the Mysm1-null mouse
| Laboratory characteristics . | First patient . | Second patient . | Mysm1-null mouse7 . | ||
|---|---|---|---|---|---|
| 6 mo . | 4 y . | 15 mo . | 3 y . | ||
| WBC (5000-15 000/μL) | 3500 | 5400 | 6.2 | 7900 | Decreased |
| Hb (10.5-13.5 g/dL) | 7.5 | 11.1 | 4.4 | 9.8 | Decreased |
| MCV (77-85 fL) | 83 | 87 | 91 | 94 | Increased |
| RDW (11.5-14.5%) | 21.2 | 17.1 | 24.2 | 25.1 | Increased |
| Platelets (150 000-450 000/μL) | 466 000 | 60 000 | 114 000 | 116 000 | Increased |
| ALC (3000-10 000/μL) | 2350 | 3670 | 4.34 | 7000 | Decreased |
| ANC (1500-8500/μL) | 690 | 1400 | 1.61 | 500 | |
| Reticulocytes (1-3%) | 0.69 | 0.54 | 1.23 | ||
| CD3+ (1600-2700/μL) | 3487 | 4684 | |||
| CD4+ (1000-1700/μL) | 1641 | 2736 | |||
| CD8+ (600-1000/μL) | 1508 | 1832 | |||
| CD19+ (400-800/μL) | 318 | 92 | Decreased | ||
| CD16/CD56+ (200-400/μL) | 86 | 69 | |||
| IgA (0.25-1.54 g/L) | 0.75 | 2.39 | |||
| IgG (4.6-12.3 g/L) | 6.96 | 6.06 | |||
| IgM (0.43-1.96 g/L) | 0.44 | 0.27 | |||
| IgE (1.5-114 IU/mL) | 12.9 | 20.7 | |||
| Laboratory characteristics . | First patient . | Second patient . | Mysm1-null mouse7 . | ||
|---|---|---|---|---|---|
| 6 mo . | 4 y . | 15 mo . | 3 y . | ||
| WBC (5000-15 000/μL) | 3500 | 5400 | 6.2 | 7900 | Decreased |
| Hb (10.5-13.5 g/dL) | 7.5 | 11.1 | 4.4 | 9.8 | Decreased |
| MCV (77-85 fL) | 83 | 87 | 91 | 94 | Increased |
| RDW (11.5-14.5%) | 21.2 | 17.1 | 24.2 | 25.1 | Increased |
| Platelets (150 000-450 000/μL) | 466 000 | 60 000 | 114 000 | 116 000 | Increased |
| ALC (3000-10 000/μL) | 2350 | 3670 | 4.34 | 7000 | Decreased |
| ANC (1500-8500/μL) | 690 | 1400 | 1.61 | 500 | |
| Reticulocytes (1-3%) | 0.69 | 0.54 | 1.23 | ||
| CD3+ (1600-2700/μL) | 3487 | 4684 | |||
| CD4+ (1000-1700/μL) | 1641 | 2736 | |||
| CD8+ (600-1000/μL) | 1508 | 1832 | |||
| CD19+ (400-800/μL) | 318 | 92 | Decreased | ||
| CD16/CD56+ (200-400/μL) | 86 | 69 | |||
| IgA (0.25-1.54 g/L) | 0.75 | 2.39 | |||
| IgG (4.6-12.3 g/L) | 6.96 | 6.06 | |||
| IgM (0.43-1.96 g/L) | 0.44 | 0.27 | |||
| IgE (1.5-114 IU/mL) | 12.9 | 20.7 | |||
ALC, absolute lymphocyte count; ANC, absolute neutrophil count; Hb, hemoglobin; MCV, mean corpuscular volume; RDW, red cell distribution width; WBC, white blood cell count.