Table IV.

MBL polymorphisms in 40 C2D patientsa

Severity of infectionsMBL Sufficiency GenotypesMBL Deficiency GenotypesbMBL Concentrationsc
A/AYA/0XA/00/0MBL-SufficientMBL-Deficient
Group 1 (n = 12)640020
Group 2 (n = 7)510010
Group 3 (n = 12)434010
Group 4 (n = 13)830200
Total (n = 44)d57.5%27.5%10.0%5.0%
Controls (n = 200)e58.0%28.0%7.0%7.0%
  • a 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).

  • b All patients with MBL deficiency genotypes had invasive infections, but the difference was not statistically significant (p = 0.06; Fisher’s exact test).

  • c 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 ).

  • d 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).

  • e Healthy blood donors.