Discover and read the best of Twitter Threads about #vexassyndrome
Most recents (1)
"VEXAS SYNDROME", a multidisciplinary team of researchers @genome_gov have identified this new disorder:
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➡️Monogenic adult-onset autoinflammatory disease affecting males ♂️👨👦
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➡️Monogenic adult-onset autoinflammatory disease affecting males ♂️👨👦
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➡️Caused by a mutation in the UBA1 gene 🧬 that encodes major E1 enzyme that initiates ubiquitylation
➡️Suggests postzygotic somatic mutation may be a more frequent cause of human disease👨
➡️Patients develop inflammatory symptoms🔥and hematological abnormalities🩸👇
➡️Caused by a mutation in the UBA1 gene 🧬 that encodes major E1 enzyme that initiates ubiquitylation
➡️Suggests postzygotic somatic mutation may be a more frequent cause of human disease👨
➡️Patients develop inflammatory symptoms🔥and hematological abnormalities🩸👇
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🔥🔥INFLAMMATORY SYMPTOMS
👉Fatigue 😫
👉Recurrent fever 🤒🌡️
👉Lung infiltrates 🫁
👉Skin lesions🔴
👉Ear chondritis👂
👉and vasculitis
🔥🔥INFLAMMATORY SYMPTOMS
👉Fatigue 😫
👉Recurrent fever 🤒🌡️
👉Lung infiltrates 🫁
👉Skin lesions🔴
👉Ear chondritis👂
👉and vasculitis
