Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency: genes and variants

Genes linked to Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

• 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.

  38 disease-causing and 149 uncertain variants in STAT1 are linked to Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency.

Where Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency variants cluster

• STAT1 Coiled coil (positions 136–317): 19 of 38 disease-causing changes, 2.1× more than its size predicts.

Known disease-causing variants in Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Uncertain variants in Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency that look disease-causing

Same protein, different disease

• Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome is also caused by STAT1 variants; they fall partly in the same places as the Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency variants (47 disease-causing).
• Inherited Immunodeficiency Diseases is also caused by STAT1 variants; they fall partly in the same places as the Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency variants (6 disease-causing).

Diseases related to Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

• Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, also linked to STAT1
• Inherited Immunodeficiency Diseases, also linked to STAT1

Frequently asked questions

Which genes are linked to Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency?

In CATVariant, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency is linked to 1 analyzed protein: STAT1 (Signal transducer and activator of transcription 1-alpha/beta).

How many genetic variants are linked to Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency?

188 variants: 38 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 149 are of uncertain significance or have conflicting reports.

Which uncertain variants in Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency look disease-causing?

1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example 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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