Table I.
Pre-transplant patient characteristics
| Characteristic | Patient 1 | Patient 2 |
|---|---|---|
| Age at | ||
| Diagnosis | 2 months | 11 years |
| HCT | 9 months | 16 years |
| IPEX features | ||
| Immune dysregulation | Eosinophilia (1000–2000/mm3) | Eosinophilia (>2000/mm3) |
| Hyper-IgE (183 IU/mL) | Hyper-IgE (842 IU/mL) | |
| Anticardiolipin antibodies (DVT) | Hypogammaglobulinemia (204 mg/dL) | |
| Hemolytic anemia | Anemia | |
| Infections | Infections | |
| Membranous nephropathy | ||
| Polyendocrinopathy | Diabetes | Diabetes |
| Hypothyroidism | ||
| Growth Hormone Deficiency | ||
| Enteropathy | Diarrhea | Diarrhea |
| Failure to thrive | Failure to thrive | |
| Other | Steroid dependent interstitial lung disease | |
| Osteopenia | ||
| Seizure disorder | ||
| FOXP3 gene | ||
| Mutation* | c.210_210+1GG>AC | c.816+7G>C |
| Mutation significance | Abnormal mRNA splicing | Abnormal mRNA splicing |
| Protein expression | Absent | Reduced |
| Infections | ||
| Bacterial | Skin abscesses | Recurrent pneumonias |
| Staphylococcus aureus | ||
| MRSA | ||
| Brain abscess | ||
| Sepsis | ||
| Group A streptococcus | ||
| Enterococcus Faecalis | ||
| Coagulase negative | ||
| Staphylococcus | ||
| Fungal | Fungemia | Skin abscesses |
| Candida albicans | Alternaria | |
| Viral | Viremia | Viremia |
| Cytomegalovirus | Cytomegalovirus | |
| EBV | ||
| EBV-lymphoproliferative disorders of lungs and intestinal tract |
*
Mutation nomenclature per den Dunnan and Antonarakis.(25)
EBV, Epstein-Barr virus; HCT, hematopoietic cell transplantation; MRSA, methicillin-resistant Staphylococcus aureus