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GTR Home > Conditions/Phenotypes > Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

Synonyms
Candidiasis, familial, 7; Immunodeficiency 31C; Immunodeficiency 31C, autosomal dominant
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

IMD31C is a disorder of immunologic dysregulation with highly variable manifestations resulting from autosomal dominant gain-of-function mutations in STAT1 (600555). Most patients present in infancy or early childhood with chronic mucocutaneous candidiasis (CMC). Other highly variable features include recurrent bacterial, viral, fungal, and mycoplasmal infections, disseminated dimorphic fungal infections, enteropathy with villous atrophy, and autoimmune disorders, such as hypothyroidism or diabetes mellitus. A subset of patients show apparently nonimmunologic features, including osteopenia, delayed puberty, and intracranial aneurysms. Laboratory studies show increased activation of gamma-interferon (IFNG; 147570)-mediated inflammation (summary by Uzel et al., 2013 and Sampaio et al., 2013). [from OMIM]

Available tests

28 tests are in the database for this condition.

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Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CANDF7, IMD31A, IMD31B, IMD31C, ISGF-3, STAT91, STAT1
    Summary: signal transducer and activator of transcription 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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