Properdin deficiency
| Disorder | |
|---|---|
| OMIM #: | #312060 (Click to access OMIM database) |
| Disorder: | Properdin deficiency |
| Also known as: | PROPERDIN P FACTOR DEFICIENCY PFD, PROPERDIN DEFICIENCY, TYPE I |
| Clinical | |
| Phenotype: | Immune deficiency, increased susceptibility to encapsulated bacteria, impaired complement function, increased susceptibility to neisseria infections , properdin P factor deficiency |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | X-linked recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | CFP |
| Base Change: | T>G, at nucleotide 379 |
| Amino Acid Change: | cys 127 --> gly |
| Last updated: | 2022-11-15 |
| References |
|---|
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
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