Disorder "Autoimmune Hypersensitivity Disease"
Found 2 records
Disorder information
Disorder name:
Autoimmune Hypersensitivity Disease
Disoder ID:
OMIM entry:
Synonyms:
autoimmune disease, hypersensitivity reaction type II disease
Definition:
A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to his own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).
Modifier statisitcs
Record:
2
Gene:
2
Variant:
2
Reference:
2
Effect type:
Expressivity(2)
Modifier effect:
Altered severity(1)
,Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| PTPN22 | PTPN22:c.-1123C>G | Expressivity | Risk factor | P=0.0258 | The -1123G > C SNP in the PTPN22 gene promoter and HLA DRB1*0405-DQB1*0401 might influence the concurrence of systemic and organ-specific ADs in patients with type 1 diabetes.more | more |
| FOXP3 | FOXP3:p.Arg347His | Expressivity | Altered severity | Gene activity study | Inactivating mutations of FOXP3 cause immunodysregulation, polyendocrinopathy, and enteropathy, X-linked syndromemore | more |
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