Table 2 Laboratory Findings
From: H syndrome: 5 new cases from the United States with novel features and responses to therapy
Laboratory Test | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 |
|---|---|---|---|---|---|
SLC29A3 mutation | c.1087CÂ >Â T | c.347Â TÂ >Â G c.610Â +Â 1GÂ >Â C | c.347Â TÂ >Â G c.610Â +Â 1GÂ >Â C | G437R IVS2Â +Â IGÂ >Â C | G437R IVS2Â +Â IGÂ >Â C |
Autoantibodies | |||||
 ANA | + (1:640) | – |  | – | – |
 ANA specificities | – | - SCl 70 |  | – | – |
 Celiac Disease | – | – | 172 (0–19)a | – | – |
 Type I Diabetes Mellitus |  |  | +b | +c | +c |
 Thyroid | – |  | – | – | – |
 Anti-Actin | +29.3 (<19.9) |  |  | +21 (<19) | – |
 HSP70 (68 kDa) |  |  | weak + |  |  |
 Anti-Cyclic Citrullinated Peptide | – | – |  | – | – |
 Rheumatoid Factor | – | – |  | – | – |
Hematologic | |||||
 Microcytic Anemia | + | + | – | – | – |
 Elevated platelets | + | + | + | – | – |
 Elevated transaminases | + | – | – | – | – |
 Elevated ESR | + | + | + | + | + |
 Elevated CRP | + | + | + | + | + |
Lipids | |||||
 HDL |  | 4 mg/dL |  | 25 mg/dL | 24 mg/dL |
Immunologic | |||||
 IgG | 1182 mg/dL (413–1112) | 2190 mg/dL (608–1229) | 1077 mg/dL (584–1509) | 1820 mg/dL (549–1584) | Nml |
 IgA | 284 mg/dL (9–137) | 32 mg/dL (68–378) | 311 mg/dL (45–234) | Nml | 342 mg/dL (42–249) |
 IgM | 169 mg/dL (30–146) | 66 mg/dL (48–226) | 60 mg/dL (49–230) | Nml | Nml |
 IgG subclasses |  | IgG2, IgG4 undetectable | Nml | IgG-1 1430 (240–1118} | Nml |
 IgD |  | <0.2 |  |  |  |
Endocrine | |||||
 GH |  | 0.31 ng/ml (4.8 with hypoglycemia) | 3.03 ng/ml |  |  |
 IGF BP3 | 1.5 mcg/mL (0.7–3.6) | 1.18 mg/ml (1.16–3.13) | 2490 ng/ml (2314–6086) |  |  |
 IGF-1 | 146 ng/mL (51–303) | 27 ng/ml (109–485) | 58 ng/ml (64–358) |  |  |
 TSH, free T4 | Nml | Nml | Nml | Nml | Nml |