Table 2.
Common clinical features of all reported CARMIL2-deficient patients.
| Sorte et al. (6) | Wang et al. (5) | Schober et al. (7) | This study | Total | |
|---|---|---|---|---|---|
| Total patients | 4 | 6 | 4 | 7 | 21 |
| Age range (years) | 18–52 | 2–27 | 4–14 | 4–34 | 2–52 |
| Sex | 2M/2F | 2M/4F | 2M/2F | 4M/3F | 10M/11F |
| Consanguinity | 0/4 | 5/6 | 4/4 | 7/7 | 16/21 (76%) |
| Dermatitis | 4/4 | 5/6 | 2/4 | 6/7 | 17/21 (80%) |
| Recurrent chest infections | 3/4 | 5/6 | 4/4 | 5/7 | 17/21 (80%) |
| Skin abscesses | 3/4 | 2/6 | 1/4 | 7/7 | 13/21 (62%) |
| Warts | 4/4 | 0/6 | 2/4 | 2/7 | 8/21 (38%) |
| Poor antibody response | 2/6 | 6/7 | 8/13 (61%) | ||
| Esophageal disease | 0/4 | 1/6 | 0/4 | 5/7 | 6/21 (29%) |
| Mucocutaneous candidiasis | 0/4 | 3/6 | 0/4 | 2/7 | 5/21 (24%) |
| Epstein–Barr virus-related smooth muscle tumor | 0/4 | 0/6 | 4/4 | 0/7 | 4/21 (19%) |
| Molluscum contagiosum | 2/4 | 1/6 | 0/4 | 0/7 | 3/21 (14%) |
| Mycobacterial infections | 0/4 | 2/6 | 0/4 | 0/7 | 2/21 (9%) |
| Mortality | 0/4 | 1/6 | 3/4 | 0/7 | 4/21 (19%) |