Variants in immune regulatory genes such as PTPN22, CTLA4, and IRF5 can disrupt the immune system's braking mechanisms, leading to overactive immune responses and contributing to autoimmune diseases including lupus, rheumatoid arthritis, and type 1 diabetes.
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Immune Gene Secrets: PTPN22 & IRF5 Linked to Autoimmunity #shortsAdded:
PTPN 22 is another important gene involved in immune regulation. It affects TE-C cell signaling and particularly uh how TE-C cells are activated and how strongly they respond. So variance in this gene can lead to overactive immune responses or reduced ability to properly regulate activation. So this has to this is how this has been linked to conditions such as rheumatoid arthritis, lupus and type 1 diabetes as well. Um so CTLA4 plays a critical role in controlling tea cell activation. It acts like a uh kind of like a breaking system uh in the immune system, right? So it it's there to prevent excess activation which is really critical. uh when when this function is impaired it uh it may become overactive or or less regulated uh or tea cells can become overactive or less regulated which is a really big deal with thyroid issues right um IRF or interferon regulatory factor 5 uh is involved in the production of interferons and other inflammatory signals All right. So interferons are important for anti- everything defense. Right. So but when overproduced they can contribute to chronic inflammation and autoimmunity.
Variants in IRF5 are strongly associated with lupus, rheumatoid arthritis where interferon signaling is often elevated.
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