Table 1.
CANDLE/PRAAS and SAVI demographics
| Demographics | PRAAS/CANDLE (n = 37) |
SAVIb(n = 14) |
|---|---|---|
| Age of onseta | Infancy–6 months | Infancy–6 months |
| Gender | 13 F/24 M | 5 F/9 M |
| Ethnicity | ||
| Hispanic | 15 | 1 |
| Japanese | 10 | 0 |
| Caucasian | 7 | 3 |
| Afro-Jamaican | 2 | 0 |
| Palestinian | 1 | 0 |
| Ashkenazi Jewish | 1 | 0 |
| French-Canadian | 0 | 5 |
| Turkish | 0 | 2 |
| Ukrainian | 0 | 1 |
| Mixed Ethnicity | 1 | 1 |
| Unknown | 0 | 1 |
| Clinical outcome at last published assessment | ||
| Alive | 26 (70.3 %) | 10 (71.4 %) |
| Deceased | 11 (29.7 %) | 4 (28.6 %) |
| Respiratory failure (6, 54, and 63 years old)/(14, 15, and 16 years oldc) | 3 | 3 |
| Congestive heart failure (47 years old) | 1 | 0 |
| Presumed progression of chronic liver and kidney disease (25 years old) | 1 | 0 |
| Sepsis, recurrent pancreatitis (10 years old) | 1 | 0 |
| Presumed sepsis (8 years old) | 1 | 0 |
| Necrotizing fasciitis (29 years old) | 0 | 1 |
| Unknown (4, 6, 14, and 26 years old) | 4 | 0 |
References. PRAAS/CANDLE: 3, 13–23, includes 7 previously unpublished patients evaluated or reviewed at NIH (3 with limited information not included in Table 2). SAVI: 4, 26–29, includes 1 previously unpublished patient evaluated at NIH
a
PRAAS/CANDLE: seven with later onset (between 11 months–4 years). SAVI: three within one family with later onset, two as teenagers, one as adult
b
Four cases within one family
c
Respiratory failure in SAVI likely related to underlying SAVI-related lung disease. Secondary infection was noted in two (14 and 15 year old)