Cargando…
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors
OBJECTIVES: To characterise the clinical features, immune manifestations and molecular mechanisms in a recently described autoinflammatory disease caused by mutations in TRNT1, a tRNA processing enzyme, and to explore the use of cytokine inhibitors in suppressing the inflammatory phenotype. METHODS:...
Ejemplares similares
-
Immune dysregulation in patients with TRNT1 deficiency
por: Giannelou, A, et al.
Publicado: (2015) -
TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency
por: Aksentijevich, Ivona, et al.
Publicado: (2014) -
Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome
por: Trachsel, Tina, et al.
Publicado: (2022) -
Fatal RSV in SCID: the Importance of Infection Prevention Despite Newborn Screening
por: Soomann, Maarja, et al.
Publicado: (2023) -
Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences
por: Springer, Jason Michael, et al.
Publicado: (2018)