Definition

A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2.

Synonyms

autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
autosomal dominant chronic mucocutaneous familial candidiasis

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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immunodeficiency 31C

immunodeficiency 31C

Associated Genes

Associated Alleles

Associated Models