Patient characteristics
Patient . | Age, y . | Dilated cardiomyopathy . | 3-Methyl glutaconic aciduria . | TAZ gene mutation . | Cardiolipin deficiency . | Infections . | ANC, no. per μL* . | Eos/neutro, % . | Plasma sFcγRIII, %† . |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 0.7 | Yes | Yes | Codon 57, exon 2 | Fibroblasts, thrombocytes | No | 1410 ± 120 | 20-25 | 210 |
| CGA > CTA missense mutation | |||||||||
| Arg → Leu | |||||||||
| 2 | 2.1 | Yes, ventricular noncompaction | Yes | Intron 1, exon 2 | Fibroblasts, thrombocytes | No | 567 | 1-2 | 51 |
| AG → splice acceptor site | |||||||||
| 3 | 11 | Yes | Yes | Codon 197, exon 8 | Thrombocytes | Skin infections | 890 | 20 | 71 |
| GGG > GTG missense mutation | |||||||||
| Gly → Val | |||||||||
| 4 | 12 | Yes, mild, no treatment | Yes | Not known | Fibroblasts, thrombocytes | Neonatal infection | 989 ± 128 | 13-17 | 78 |
| 5 | 15 | Yes | Yes | Codon 51, exon 2 | Fibroblasts, thrombocytes | No | 807 ± 262 | 15-19 | 64 |
| TAC > TAG stop codon | |||||||||
| 6 | Adult | Yes | Yes | Codon 216, exon 8 | Fibroblasts, thrombocytes | No | 2080 | 4 | 114 |
| GGA > AGA missense mutation | |||||||||
| Gly → Arg | |||||||||
| 7 | Adult | Yes, symptomatic during infancy, spontaneous improvement | Not known | Codon 57, exon 2 | Fibroblasts, thrombocytes | No | 2990 | 2 | 120 |
| CGA > CTA missense mutation | |||||||||
| Arg → Leu |
Patient . | Age, y . | Dilated cardiomyopathy . | 3-Methyl glutaconic aciduria . | TAZ gene mutation . | Cardiolipin deficiency . | Infections . | ANC, no. per μL* . | Eos/neutro, % . | Plasma sFcγRIII, %† . |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 0.7 | Yes | Yes | Codon 57, exon 2 | Fibroblasts, thrombocytes | No | 1410 ± 120 | 20-25 | 210 |
| CGA > CTA missense mutation | |||||||||
| Arg → Leu | |||||||||
| 2 | 2.1 | Yes, ventricular noncompaction | Yes | Intron 1, exon 2 | Fibroblasts, thrombocytes | No | 567 | 1-2 | 51 |
| AG → splice acceptor site | |||||||||
| 3 | 11 | Yes | Yes | Codon 197, exon 8 | Thrombocytes | Skin infections | 890 | 20 | 71 |
| GGG > GTG missense mutation | |||||||||
| Gly → Val | |||||||||
| 4 | 12 | Yes, mild, no treatment | Yes | Not known | Fibroblasts, thrombocytes | Neonatal infection | 989 ± 128 | 13-17 | 78 |
| 5 | 15 | Yes | Yes | Codon 51, exon 2 | Fibroblasts, thrombocytes | No | 807 ± 262 | 15-19 | 64 |
| TAC > TAG stop codon | |||||||||
| 6 | Adult | Yes | Yes | Codon 216, exon 8 | Fibroblasts, thrombocytes | No | 2080 | 4 | 114 |
| GGA > AGA missense mutation | |||||||||
| Gly → Arg | |||||||||
| 7 | Adult | Yes, symptomatic during infancy, spontaneous improvement | Not known | Codon 57, exon 2 | Fibroblasts, thrombocytes | No | 2990 | 2 | 120 |
| CGA > CTA missense mutation | |||||||||
| Arg → Leu |