Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome: genes and variants

Genes linked to Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

• STAT1: Signal transducer and activator of transcription 1-alpha/beta

  It executes interferon-driven transcriptional programs required for antiviral and antimycobacterial immunity. Loss-of-function variants can cause severe infectious susceptibility, whereas gain-of-function variants classically cause chronic mucocutaneous candidiasis and autoimmunity.

  47 disease-causing and 157 uncertain variants in STAT1 are linked to Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome.

Where Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome variants cluster

• STAT1 Coiled coil (positions 136–317): 27 of 47 disease-causing changes, 2.4× more than its size predicts.

Known disease-causing variants in Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

Uncertain variants in Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome that look disease-causing

Same protein, different disease

• Inherited Immunodeficiency Diseases is also caused by STAT1 variants; they fall in the same places as the Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome variants (6 disease-causing).

Diseases related to Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

• Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, also linked to STAT1
• Inherited Immunodeficiency Diseases, also linked to STAT1

Frequently asked questions

Which genes are linked to Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome?

In CATVariant, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome is linked to 1 analyzed protein: STAT1 (Signal transducer and activator of transcription 1-alpha/beta).

How many genetic variants are linked to Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome?

212 variants: 47 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 157 are of uncertain significance or have conflicting reports.

Which uncertain variants in Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome look disease-causing?

3 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example STAT1 E284K, STAT1 G384V and STAT1 K286E. These are leads for expert review, not diagnoses.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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