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Condition report · Immunological

STAT1 and STAT3 Gain-of-Function

Conditions caused by overactive STAT1 or STAT3 signalling proteins. STAT3 gain-of-function causes early-onset multisystem autoimmunity, and STAT1 gain-of-function causes autoimmunity, endocrine disease and infections, including chronic candidiasis, which is also covered in the Chronic Mucocutaneous Candidiasis report.

A condition report looks for rare variants known to cause the conditions it covers.

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The 2 conditions we analyse

STAT3 gain-of-function disease

Autosomal dominant

Early-onset autoimmunity affecting the gut, blood, endocrine glands and lungs, with lymphoproliferation and poor growth, caused by an activating STAT3 change.

What a diagnosis changes

JAK inhibitors and IL-6 blockade can control disease, and a genetic diagnosis guides the choice of therapy.

Genes analysed

Also known as

ADMIO; ADMIO1; autoimmune disease, multisystem, infantile-onset

MONDO:0014414OMIM 615952Orphanet 438159MedGen 863232

STAT1 gain-of-function disease with autoimmunity

Autosomal dominant

Enteropathy, endocrine autoimmunity, bacterial and fungal infections and short stature caused by an activating STAT1 change.

What a diagnosis changes

JAK inhibitors can control symptoms, and monitoring for aneurysms and infections is advised.

Genes analysed

Also known as

CANDF7; candidiasis familial chronic mucocutaneous, autosomal dominant; candidiasis familial, 7; familial chronic mucocutaneous, autosomal dominant; IMD31C; immunodeficiency 31C; immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant; immunodeficiency type 31C

MONDO:0013599OMIM 614162Orphanet 391487MedGen 481620

Other immunological conditions

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