Table 1.
Patients characteristics.
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | Patient 9 | |
|---|---|---|---|---|---|---|---|---|---|
| Mutated gene | SKIV2L | SKIV2L | SKIV2L | TTC37 | TTC37 | TTC37 | TTC37 | TTC37 | TTC37 |
| Mutation 1 | c.848 G>A p.Trp283* | c.3561_3581del p.Ser1189_Leu1195del | c.1635_1636insA p.Gly546Arg fs*35 | c.287_291del p.Leu96Trp fs*11 | c.287_291del p.Leu96Trp fs*11 | c.1708 C>T p.Arg570* | c.2515+1 G>C p.Cys813Val fs*56 | c.3015−1 G>A | c.3808 C>G p.Pro1270Ala |
| Mutation 2 | c.1022 T>G p.Val341Gly | c.3561_3581del p.Ser1189_Leu1195del | c.1635_1636insA p.Gly546Arg fs*35 | c.287_291del p.Leu96Trp fs*11 | c.287_291del p.Leu96Trp fs*11 | c.3185_3201dup p.Lys1068Ser fs*2 | c.2515+1 G>C p.Cys813Val fs*56 | c.4454 T>G p.Leu1485Arg | c.3808 C>G p.Pro1270Ala |
| Intractable diarrhea | Y | Y | Y | Y | Y | Y | Y | Y | Y |
| Onset of diarrhea | D31 | D21 | 0 | D21 | D335 | D72 | D204 | D31 | D19 |
| Small for gestationnal age | Y | Y | Y | N | N | Y | Y | Y | Y |
| Hair abnormalitiesa | Y | Y | Y | Y | Y | Y | Y | Y | Y |
| Facial dysmorphya | N | U | Y | Y | N | Y | Y | Y | Y |
| Liver disease | Y | U | N | N | N | Y | Y | Y | Y |
| Dermatological abnormalities | Y | U | Y | Y | N | Y | Y | Y | Y |
| Cardiac abnormalities | N | N | N | N | N | N | N | N | N |
| Hemophagocytosis | N | N | N | Y (EBV) | Y (EBV) | Y (Kawasaki disease) | Y (EBV) | N | N |
| Immunoglobulin replacement therapy (period) | N | Y (D99–328) | Y (D33–4,023) | N | Y (D336–1,858) | N | Y (1,009–on going) | Y (D202–on going) | Y (D97–on going) |
| Ig classes and subclasses and age at the diagnosis | D253 | D99 | D181 | D45 | D153 | D395 | D153 | D60 | |
| IgA level (g/l) | 0.56 | 0.19 | 0.07 | <0.27 | 1.80 | 0.32 | 0.13 | <0.04 | |
| IgG level (g/l) | 4.10 | 1.31 | 1.85 | 3.46 | 10.25 | 4.90 | 1.36 | 0.44 | |
| IgM level (g/l) | 0.50 | 0.20 | 0.30 | 0.61 | 0.50 | 0.57 | 1.5 | 0.05 | |
| IgG1 level (g/l) | 2.99 | <0.79 | 4.68 | 3.1 | |||||
| IgG2 level (g/l) | 0.48 | <0.19 | 0.59 | 0.86 | |||||
| IgG2 level (g/l) | 0.87 | 0.126 | 0.82 | 1.16 | |||||
| IgG4 level (g/l) | 0.05 | 0.02 | <0.01 | 0.04 | |||||
| Virus infection | EBV primoinfection requiring Mabthera, persistent EBV replication | EBV | EBV | Adenovirus infection requiring hospital admission in the PICU | EBV |
Y, yes; N, no; U, unknown; PICU, pediatric intensive care unit.
aFacial and hair abnormalities are nearly constant feature of THE syndrome. Most of the time, hair is described as woolly, uncombable, easily removable, and poorly pigmented, and the trichohexis nodosa is found when it is sought. Facial dysmorphia is less noticeable, and it may become more evident over time. The main feature is coarse facial expressions with huge forehead and broad nasal root.