Disease

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.

Synonyms

APLAID
autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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