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World Journal of Clinical Pediatrics

E. Alexeeva Meiri Sh Tatyana M. Shingarova Ksenia B. Dvoryakovskaya A. Isaeva A. Chomakhidze Kristina V. Fetisova E. A. Chibisova Ivan A. Krekhova Tatyana Y. Kriulin Irina T. Kriulina Maria S. Tsulukiya Natalya M. Botova Maria Y. Kondratyeva A. Kokina A. MakuncNarvik Kirill V. Dostiev A. Savost'yanov Ilya S. Pushkov Dmitry S. Zhanin Mikhail M. Demyanov Kostik Dostiev T. Dvoryakovskaya K. Savostyanov A. Pushkov I. Zhanin D. Demyanov M. Kostik
· 0 citations · 23 references

TL;DR

Variants in this gene present with an autoinflammatory phenotype and are linked to tumor necrosis factor receptor associated periodic syndrome (TRAPS), an orphan monogenic autoinflammatory disease that can mimic systemic juvenile idiopathic arthritis (sJIA) and AID.

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