Table 1.
Laboratory and immunological data of two patients with RAC2 deficiency
| Laboratory test | Proband | Sibling | Reference values* |
|---|---|---|---|
| Complete blood count | At age of 1 yr | At age of 7 yrs | |
| WBC/mm3 | 9200 | 7800 | 4000-11000 |
| Neutrophils (%) | 62 | 66 | 20-70 (for age of 1 yr) |
| 35-80 (for age of 7 yrs) | |||
| Lymphocytes (%) | 27↓ | 25↓ | 45-75 (for age of 1 yr) |
| 30-55 (for age of 7 yrs) | |||
| CD3+ (%) | 60 | 62 | 30-78** |
| CD4+ (%) | 30 | 25 | 22-58** |
| CD8+ (%) | 33 | 35 | 10-37** |
| CD4+/CD8+ ratio | 0.9↓ | 0.7↓ | 1-4** |
| CD19+ (%) | 2.5↓ | 8.5 | 3-14** |
| Serum complement factors | At age of 1 yr | At age of 7 yrs | |
| C3 (mg/dl) | 79↓ | 110 | 83-177 |
| C4 (mg/dl) | 27 | 20 | 15-45 |
| Neutrophil analyses | At age of 7 yrs | At age of 28 yrs | |
| CD18+ (%) | 70 | n.a. | 70-100 |
| CD11a+ (%) | 92↑ | n.a. | 60-90 |
| CD11b+ (%) | 98↑ | n.a. | 60-90 |
| CD11c+ (%) | 99↑ | n.a. | 45-80 |
| NBT test (%) | 98 | n.a. | 95-100 |
| Chemotaxis without CF (μm) | n.a. | 10↓ | 22-54 |
| Chemotaxis with CF (μm) | n.a. | 45↓ | 77-125 |
| Serum immunoglobulins | At age of 7 yrs | At age of 10 yrs | |
| IgM (mg/dl) | 30↓ | 28↓ | 40-230 |
| IgG (mg/dl) | 430↓ | 640↓ | 700-1600 |
| IgA (mg/dl) | 5↓ | 19↓ | 41-297 (for age of 7 yrs) |
| 51-297 (for age of 10 yrs) | |||
| Vaccine antibodies | At age of 27 yrs | ||
| Antibody level pre-Pneumovax 23 (U/ml) | n.a. | 1↓ | 1.2-2 |
| Antibody 3 weeks post-Pneumovax 23 (U/ml) | n.a. | 8↓ | 10-14 |
| Antibody 1 year post-Pneumovax 23 (U/ml) | n.a. | 8 | 6-9 |
| Anti-tetanus (IU/ml) | n.a. | 1.56 | > 0.1 |
| Anti-diphtheria (IU/ml) | n.a. | 0.4 | > 0.1 |
| Autoantibodies and thyroid markers | At age of 7-16yrs | At age of 10-16 yrs | |
| ANA | Negative | Negative | Negative |
| ANCA | Negative | Negative | Negative |
| Anti-dsDNA | Negative | Negative | Negative |
| Anti-TPO (IU/ml) | 68↑ | 81↑ | 0-35 |
| TSH (mU/l) | 11.4↑ | 11.0↑ | 0.4-5.5 |
| T3 (μg/dl) | 30 | 33 | 25-36 |
| T4 (nmol/l) | 8 | 4↓ | 5-14 |
| PTH (pg/ml) | 194↑ | n.a. | 15-65 |
| GH (ng/ml) | n.a. | 1.3↓ | 10-40 |
| Anti-IgA (U/ml) | n.a. | 2.0 | 1.5-2.9 |
| Other tests | At age of 18 yrs | At age of 25 yrs | |
| KRECs | 2↓ | 8↓ | (85, 22)*** |
| TRECs | 24↓ | 10↓ | (67, 23)*** |
Abbreviations used: yr, year; WBC, white blood cells; n.a., not analyzed; NBT, nitroblue tetrazolium; CF, chemotactic factor; ANA, anti-nuclear antibody; ANCA, anti-neutrophil cytoplasmic antibody; Anti-dsDNA, anti-double stranded DNA antibody; Anti-TPO, anti-thyroperoxidase antibody; TSH, thyroid stimulating hormone; PTH, parathyroid hormone; GH, growth hormone; KRECs, kappa-deleting recombination excision circles; TRECs, T-cell receptor excision circles.
Reference: age-appropriate reference range or value from healthy Iranian individuals
The local hospital reference range is not stratified for age between 1-7 years
Due to the lack of appropriate reference values for the adult population, the TRECs and KRECs analyses were compared to two age-matched healthy controls.