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NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. They have … joint pain and overall failure to grow or thrive. … Otulipenia is caused by the malfunction of OTULIN, a single … hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… Periodic Fevers and Developmental Delay (SIFD) Otulipenia Cleavage-Resistant RIPK1-Induced Autoinflammatory …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease . Proc …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… causing a neonatal-onset form of panniculitis denoted otulipenia. Dr. Aksentijevich also discovered recessive … hypomorphic mutations in a linear deubiquitinase define otulipenia, an early onset autoinflmmatory disease. Proc Natl …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… type 2 (DADA2), haploinsufficiency of A20 (HA20), otulipenia, and cleavage-resistant RIPK1-induced … hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. Proc …
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… hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease Systemic …