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GTR Home > Conditions/Phenotypes > Proteasome-associated autoinflammatory syndrome 2

Proteasome-associated autoinflammatory syndrome 2

Summary

Proteasome-associated autoinflammatory syndrome-2 (PRAAS2) is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018). For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040). [from OMIM]

Available tests

12 tests are in the database for this condition.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C13orf12, HSPC014, PNAS-110, PRAAS2, UMP1, POMP
    Summary: proteasome maturation protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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