Clinical and laboratory summary of the FILS patients
| Parameter | Patient ID | |||||||||||||
| V-1 | VI-3 | VI-9 | VI-10 | VI-11 | VI-12 | VI-28 | VI-29 | VI-31 | VI-36 | VI-38 | VI-39 | VII-1 | VII-2 | |
| Gender | m | f | m | m | m | f | f | m | m | f | f | m | m | f |
| Age at last follow up (yr) | 17 | 23 | 25 | 24 | 33 | 31 | 3 | 11 | 17 | 10 | 8 | 6 | 11 | 6 |
| Recurrent respiratory infections | + | + | + | + | − | + | + | + | + | + | − | + | + | + |
| Facial dysmorphy | + | + | + | + | + | + | + | − | + | + | + | + | + | + |
| Livedo | + | + | + | + | + | + | + | − | + | + | + | + | + | + |
| Bone disease | − | + | − | − | + | − | − | + | − | − | − | − | − | − |
| Short stature | (+) | + | − | + | + | ++ | ++ | (+) | (+) | + | nd | (+) | ++ | (+) |
| IgM | ↓ | ↓ | nd | ↓ | ↓ | ↓ | ↓ | ↓ | ↓ | ↓ | ↓ | ↓ | ↓ | ↓ |
| Anti–S. pneumoniae polysaccharide IgG | ↓ | nd | nd | nd | nd | nd | ↓ | nd | ↓ | ↓ | ↓ | ↓ | ↓ | ↓ |
| Parameter | Patient ID | |||||||||||||
| V-1 | VI-3 | VI-9 | VI-10 | VI-11 | VI-12 | VI-28 | VI-29 | VI-31 | VI-36 | VI-38 | VI-39 | VII-1 | VII-2 | |
| Gender | m | f | m | m | m | f | f | m | m | f | f | m | m | f |
| Age at last follow up (yr) | 17 | 23 | 25 | 24 | 33 | 31 | 3 | 11 | 17 | 10 | 8 | 6 | 11 | 6 |
| Recurrent respiratory infections | + | + | + | + | − | + | + | + | + | + | − | + | + | + |
| Facial dysmorphy | + | + | + | + | + | + | + | − | + | + | + | + | + | + |
| Livedo | + | + | + | + | + | + | + | − | + | + | + | + | + | + |
| Bone disease | − | + | − | − | + | − | − | + | − | − | − | − | − | − |
| Short stature | (+) | + | − | + | + | ++ | ++ | (+) | (+) | + | nd | (+) | ++ | (+) |
| IgM | ↓ | ↓ | nd | ↓ | ↓ | ↓ | ↓ | ↓ | ↓ | ↓ | ↓ | ↓ | ↓ | ↓ |
| Anti–S. pneumoniae polysaccharide IgG | ↓ | nd | nd | nd | nd | nd | ↓ | nd | ↓ | ↓ | ↓ | ↓ | ↓ | ↓ |
f, female; m, male; nd, not done. For Short stature, “+” indicates less than −2 SD; “(+)” indicates −2 SD; and “++” indicates −4 SD or less. For IgM, ”↓” indicates below −2 SD. For Anti–S. pneumoniae polysaccharide IgG, ”↓” indicates antibody titer increase after nonconjugate anti-pneumococcal 23-valent vaccine less than fourfold.