MBL polymorphisms in 40 C2D patientsa
| Severity of infections . | MBL Sufficiency Genotypes . | . | MBL Deficiency Genotypesb . | . | MBL Concentrationsc . | . | |||
|---|---|---|---|---|---|---|---|---|---|
| . | A/A . | YA/0 . | XA/0 . | 0/0 . | MBL-Sufficient . | MBL-Deficient . | |||
| Group 1 (n = 12) | 6 | 4 | 0 | 0 | 2 | 0 | |||
| Group 2 (n = 7) | 5 | 1 | 0 | 0 | 1 | 0 | |||
| Group 3 (n = 12) | 4 | 3 | 4 | 0 | 1 | 0 | |||
| Group 4 (n = 13) | 8 | 3 | 0 | 2 | 0 | 0 | |||
| Total (n = 44)d | 57.5% | 27.5% | 10.0% | 5.0% | |||||
| Controls (n = 200)e | 58.0% | 28.0% | 7.0% | 7.0% | |||||
| Severity of infections . | MBL Sufficiency Genotypes . | . | MBL Deficiency Genotypesb . | . | MBL Concentrationsc . | . | |||
|---|---|---|---|---|---|---|---|---|---|
| . | A/A . | YA/0 . | XA/0 . | 0/0 . | MBL-Sufficient . | MBL-Deficient . | |||
| Group 1 (n = 12) | 6 | 4 | 0 | 0 | 2 | 0 | |||
| Group 2 (n = 7) | 5 | 1 | 0 | 0 | 1 | 0 | |||
| Group 3 (n = 12) | 4 | 3 | 4 | 0 | 1 | 0 | |||
| Group 4 (n = 13) | 8 | 3 | 0 | 2 | 0 | 0 | |||
| Total (n = 44)d | 57.5% | 27.5% | 10.0% | 5.0% | |||||
| Controls (n = 200)e | 58.0% | 28.0% | 7.0% | 7.0% | |||||
Serum concentrations of MBL were determined by sandwich ELISA in four patients from whom DNA samples were not obtainable. The patients were divided into groups according to severity of infections (see Table I).
All patients with MBL deficiency genotypes had invasive infections, but the difference was not statistically significant (p = 0.06; Fisher’s exact test).
The four patients showed MBL concentrations at 10.5, 10.0, 2.75, and 2.4 mg/L, respectively. Values >0.5 mg/L were considered to indicate MBL sufficiency (46 ).
Combined analysis, using results of MBL genotyping and MBL measurements, indicated that the association between MBL deficiency and invasive infections in C2D was statistically significant (relative risk = 1.3, confidence interval (95%) = 1.1–1.6; P = 0.03, Fisher’s exact test).
Healthy blood donors.