| Geno
|
Mag
|
Summary
|
| (-;-)
|
4
|
possible immunodeficiency
|
| (-;C)
|
3
|
carrier of one allele for possible 2-allele immunodeficiency mutation
|
| (C;C)
|
0
|
common in complete genomics
|
| (D;D)
|
4
|
possible immunodeficiency
|
| (D;I)
|
3
|
carrier of one allele for possible 2-allele immunodeficiency mutation
|
| (I;I)
|
0
|
|
This SNP has been merged into rs532781899, but since the OMIM and 23andMe links are to this SNP, for the time being it is being retained (until OMIM and 23andMe update their records to reflect the merge).
A single publication based on a single patient concludes that carrying two copies of the deletion form of rs28357092 leads to immunodeficiency due to ficolin-3 deficiency.[PMID 19535802
]. To date there does not appear to be another publication replicating this finding, nor are there functional studies in mice or in vitro, and so the finding should probably be considered preliminary.
[PMID 23142462] A novel assay to quantitate MASP-2/ficolin-3 complexes in serum
[PMID 22848725] Mannose-binding lectin deficiency is associated with myocardial infarction: the HUNT2 study in Norway.
]. To date there does not appear to be another publication replicating this finding, nor are there functional studies in mice or in vitro, and so the finding should probably be considered preliminary.
