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What is STAT1 deficiency?
What is STAT1 deficiency?
RobertJohnson
Fri Nov 01 2024
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5
Ответы
1430
STAT1 deficiency refers to a condition where there is a partial or complete lack of the Signal Transducer and Activator of Transcription 1 protein. This deficiency can lead to increased susceptibility to mycobacterial diseases, due to the important role STAT1 plays in mediating cellular responses to interferons and other immune functions.
5 Ответы
WhisperWind
Sun Nov 03 2024
Autosomal recessive (AR) complete signal transducer and activator of transcription 1 (STAT1) deficiency is a rare condition.
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Chiara
Sun Nov 03 2024
This primary immunodeficiency is caused by mutations in the STAT1 gene.
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MysterylitRapture
Sun Nov 03 2024
Due to this deficiency, patients are susceptible to life-threatening mycobacterial and viral infections.
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GeishaCharming
Sun Nov 03 2024
The disorder is so uncommon that only a limited number of cases have been reported.
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SsangyongSpiritedStrength
Sat Nov 02 2024
Specifically, seven patients from five unrelated families have been documented with this condition.
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