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General Information
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| Term |
autoinflammation, antibody deficiency, and immune dysregulation syndrome |
ID (Ontology) |
DOID:0070615 (Human Disease) |
| 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. |
| Also Known As |
"APLAID" ; "autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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autoinflammation, antibody deficiency, and immune dysregulation syndrome | 1 | for disease ribbon | autoinflammation, antibody deficiency, and immune dysregulation syndrome | 1 | model of | autoinflammation, antibody deficiency, and immune dysregulation syndrome | 1 |
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Relationships