TABLE 1.
The clinical and genetic mutation features of those reported in literatures along with our case.
| Gene mutation | Mutation derived | Age of VZV infection, years | Age of evaluation, years | Other infections | Skin manifestations and others | Treatment | |
|---|---|---|---|---|---|---|---|
| P1 | c.511C>T p.(Arg171Trp) | Mother | 3.5 | 18 | Lung infections | Contagiosum molluscum, Eczema | IVIG, SMZ |
| P2 | c.511C>T p.(Arg171Trp) | Mother | 1.2 | 9 | Lung infections, bronchitis, gastroenteritis, recurrent severe acute otitis | Contagiosum molluscum, Eczema, alopecia, seborrheic dermatitis | IVIG, SMZ, G-CSF |
| P3 | c.511C>T p.(Arg171Trp) | Mother | 1.2 | 4 | Gastroenteritis, Chryseobacterium species infection | TTP, cerebrovascular stroke | IVIG, SMZ |
| P4 | c.511C>T p.(Arg171Trp) | NA | 1.2 | 5 | NE | Eczema, ecthyma | IVIG, G-CSF, HSCT |
| P5 | c.511C>T p.(Arg171Trp) | Mother | - | 3.5 | Recurrent gastroenteritis, recurrent upper respiratory tract infections | Eczema, alopecia, Gibert Disease | IVIG, SMZ |
| P6 | c.511C>T p.(Arg171Trp) | NA | 5 | 39 | Severe pneumonia with septic shock, recurrent respiratory and urinary tract infections | Contagiosum molluscum, eczema | - |
| P7 | c.1657C>T p.(Arg553Ter)) | NA | <10 | 69 | Lung infections bronchitis, recurrent sinopulmonary infections | - | Azithromycin |
| P8 | c.511C>T p.(Arg171Trp) | De novo | - | 2.25 | Parainfluenzae virus type 2 infection, Oral thrush; enteroditis Rhino/Entero virus infection | Atopic dermatitis | IVIG |
| P9 | c.511C>T p.(Arg171Trp) | Mother | - | 8 | Recurrent respiratory infections, diarrhea | Eczema, ecthyma | IVIG, SMZ |
| P10 | c.511C>T p.(Arg171Trp) | Mother | 1.5 | 24 | Bronchitis, repeated upper respiratory tract infections, ear infections, periorbital cellulitis, pneumonia | Skin infections, paronychiae, thrombocytopenia | IVIG, G-CSF |
| P11 | c.511 C>T p.(Arg171Trp) | - | - | 0.17 | Diarrhea, CMV infection | - | SMZ/trimethoprim sulfate, fluconazole, IVIG, HSCT |
| P12 | c.511 C>T p.(Arg171Trp) | - | - | Newborn | - | - | SMZ/trimethoprim sulfate, fluconazole, IVIG, HSCT |
| Our case | c.934G>T p.(Glu312Ter) | Mother | - | 5 | Fever, pneumonia, sepsis | Enteropathy | IVIG, steroid, IFX |
VZV, varicella-zoster virus; TTP, thrombotic thrombocytopenic purpura; IVIG, intravenous immunoglobin; SMZ, sulfamethoxazole; G-CSF, granulocyte-colony stimulating factor; HSCT, hematopoietic stem cell transplantation; CMV, cytomegalovirus; IFX, infliximab.