| Metadata | |
|---|---|
| ID | DOID:0070615 |
| Name | autoinflammation, antibody deficiency, and immune dysregulation syndrome |
| Definition | An autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that has_material_basis in heterozygous mutation in PLCG2 on chromosome 16q23. https://pubmed.ncbi.nlm.nih.gov/30619256/, https://pubmed.ncbi.nlm.nih.gov/23000145/ |
| Xrefs | |
| SKOS |
exactMatch MIM:614878 exactMatch ORDO:324530 exactMatch UMLS_CUI:C3553961 exactMatch GARD:17486 |
| Subsets |
DO_rare_slim |
| Synonyms |
APLAID [EXACT] autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |