Table 1.
Information on the sample cohort used in retrospective screening.
| Diagnosed PID/disorder | Number of patient samples | Previous citation (if available) | Provided by |
|---|---|---|---|
| C1 deficiency | 1# | Sigma-Aldrich, product# 234401 | |
| C2 deficiency | 8 (five newborns)* | (10, 11) | Vall d'Hebron University Hospital, Spain Son Espases University Hospital, Spain 12 Octubre Hospital, Spain Karolinska University Hospital, Sweden |
| C3 deficiency | 2# | (10) | Sigma-Aldrich, product# C8788 Karolinska University Hospital, Sweden |
| C4 deficiency | 1# | (10) | Karolinska University Hospital, Sweden |
| C5 deficiency | 1 | (12) | Vall d'Hebron University Hospital, Spain |
| C6 deficiency | 2 | Sigma-Aldrich, product# C1288 La Paz University Hospital, Spain |
|
| C7 deficiency | 3 | (13) | Son Espases University Hospital, Spain Sahlgrenska University Hospital, Sweden National Defense Medical College, Japan |
| C8 deficiency | 1# | Sigma-Aldrich, product#C1538 | |
| C9 deficiency | 4 | (14) | Fukuoka Children's Hospital, Japan National Defense Medical College, Japan |
| FB deficiency | 1 | (15) | Royal Melbourne Hospital, Australia |
| FD deficiency | 3 | (16) | Sint Antonius Hospital, the Netherlands |
| FH deficiency | 2# | (10) | Karolinska University Hospital, Sweden |
| FI deficiency | 8 | (17, 18) |
Vall d'Hebron University Hospital, Spain Royal Melbourne Hospital, Australia San Pedro de Alcántara Hospital, Spain 12 Octubre Hospital, Spain |
| Properdin deficiency | 2 | Royal Melbourne Hospital, Australia Central Hospital, Kristianstad, Sweden |
|
| SCN (HAX1 deficiency) | 2 | (19) | Tehran University of Medical Sciences, Iran |
| Total number of patients | 41 | See above | |
| Healthy Controls | 37 (21 newborns) | Karolinska University Hospital, Sweden |
*
Original Guthrie cards from newborn screening program in Sweden.
#
Available sample type is serum.