Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis Locus

PURPOSE: NLRC4-associated autoinflammatory disease (NLRC4-AID) is an autosomal dominant condition presenting with a range of clinical manifestations which can include macrophage activation syndrome (MAS) and severe enterocolitis. We now report the first homozygous mutation in NLRC4 (c.478G > A, p...

Descripción completa

Detalles Bibliográficos
Autores principales: Steiner, Annemarie, Reygaerts, Thomas, Pontillo, Alessandra, Ceccherini, Isabella, Moecking, Jonas, Moghaddas, Fiona, Davidson, Sophia, Caroli, Francesco, Grossi, Alice, Castro, Fabio Fernandes Morato, Kalil, Jorge, Gohr, Florian N., Schmidt, Florian I., Bartok, Eva, Zillinger, Thomas, Hartmann, Gunther, Geyer, Matthias, Gattorno, Marco, Mendonça, Leonardo Oliveira, Masters, Seth L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8821057/
https://www.ncbi.nlm.nih.gov/pubmed/34783940
http://dx.doi.org/10.1007/s10875-021-01175-4

Ejemplares similares

Ejemplares similares