Cryptocurrency Q&A
What is STAT1 gain of function syndrome?
What is STAT1 gain of function syndrome?
Caterina
Wed Nov 06 2024
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6 answers
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STAT1 gain of function syndrome is a rare genetic condition caused by mutations in the STAT1 gene, leading to enhanced function of the STAT1 protein. This syndrome is primarily characterized by chronic mucocutaneous candidiasis, an infection affecting the skin, mucous membranes, and nails, along with susceptibility to other infections and autoimmune manifestations.
6 answers
Stefano
Fri Nov 08 2024
STAT1 gain-of-function (GOF) represents a unique condition within the realm of primary immunodeficiency.
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Eleonora
Fri Nov 08 2024
It is distinguished by its characteristic manifestations, which primarily involve the immune system.
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SeoulStyle
Thu Nov 07 2024
Chronic mucocutaneous candidiasis (CMC) is one of the hallmark symptoms of STAT1 GOF. This condition results in persistent fungal infections affecting the mucous membranes and skin.
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HanRiverWave
Thu Nov 07 2024
In addition to CMC, individuals with STAT1 GOF also experience recurrent respiratory infections. These infections can range from mild to severe and significantly impact the quality of life.
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CryptoWizard
Thu Nov 07 2024
Autoimmunity is another significant aspect of STAT1 GOF. This refers to the immune system's abnormal response to self-tissue, leading to inflammation and tissue damage.
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