A study of patients with suspected immunodeficiency found a higher number of homozygous and compound heterozygous patients with abnormal mannan-binding protein (MBP) alleles (variants B, C, and D). In the case group of 229 patients, one patient was homozygous for D and five were compound heterozygous for B/D. No patients in the control population of 123 controls were homozygous or compound heterozygous for this allele.
Case+: 6, Case-: 223, Control+: 0, Control-: 123. Our 2-tailed Fisher’s Exact test finds this has a p=0.0953.
A study of the frequency of MBL2 variants was made comparing children meningococcal disease with controls in both a hospital-based study and community-based.
Of 266 patients and 382 controls in the combined data, none were homozygous for R52C. In the patients, 12 were compound heterozygous for R52C and either G54D or G57E. Of 382 controls, 4 were compound heterozygous for R52C and G54D or G57E. (Note: G57E was not checked in the community-based groups.)
Case+: 12, Case-: 254, Control+: 4, Control-: 378. Two-tailed Fisher’s Exact: p=0.0081