PW03-035 – Autoinflammatory diseases diagnostic chart/tool

Por Durrant, KL, Muscari, I, Aróstegui, JI
Publicado em 2013

Hyper-IgD syndrome: a new mutation (p.R277G) with a severe phenotype

Por Conde M, Neves C, Brito MJ, Arostégui JI, Santos J
Publicado em 2011-09-01

Hyper-IgD syndrome: a new mutation (p.R277G) with a severe phenotype

Por Santos, J, Arostégui, JI, Brito, MJ, Neves, C, Conde, M
Publicado em 2011

Hiper IgD syndrome (HIDS): clinical and genetic features in five patients

Por Marco, A, Calvo, I, Lopez, B, Arostegui, JI, Yagüe, J
Publicado em 2008

Long-term efficacy and safety of Canakinumab in active Hyper-IgD syndrome (HIDS): results from an open-label study

Por Aróstegui, JI, Anton, J, Calvo, I, Robles, A, Speziale, A, Joubert, Y, Junge, G, Yagüe, J
Publicado no Pediatr Rheumatol Online J (2015)

Development of a workflow to analyze autoinflammatory-associated genes using AccessArray™ system and next generation sequencing

Por Gonzalez-Roca, E, Ruiz-Ortiz, E, Anton, MC, Plaza, S, Mensa-Vilaro, A, Yagüe, J, Arostegui, JI
Publicado no Pediatr Rheumatol Online J (2015)

P02-021 - Atypical CAPS consequence of novel NLPR3 mutations

Por Gonzalez-Roca, E, Espinosa, G, Bartra, J, Ruiz-Ortiz, E, Rius, J, Plaza, S, Yague, J, Arostegui, JI
Publicado em 2013

PW02-024-B - First report of AA amyloidosis in Blau syndrome

Por Ruiz-Ortiz, E, Saurina, A, González-Roca, E, Solé, M, Modesto, C, Rius, F, Plaza, S, Yagüe, J, Aróstegui, JI
Publicado em 2013

P02-002 - IL36RN mutations in patients with DITRA

Por Arostegui, JI, Vicente-Villa, MA, Chaves, A, Gonzalez-Roca, E, Ruiz-Ortiz, E, Rius, J, Plaza, S, Gonzalez-Enseñat, MA, Yague, J
Publicado em 2013

Description of a case of late-onset cryopyrin-associated periodic syndrome due to low-level somatic NLRP3 mosaicism

Por Mensa-Vilaro, A, Bosque-Peralta, MT, Gonzalez-Roca, E, Casorran-Berges, M, Delgado-Beltran, C, Plaza, S, Anton, MC, Ruiz-Ortiz, E, Yagüe, J, Arostegui, JI
Publicado no Pediatr Rheumatol Online J (2015)

Somatic NLRP3 mosaicism in Muckle-Wells syndrome

Por Gonzalez-Roca, E, Mensa-Vilaro, A, Plaza, S, Anton, MC, Rius, J, Ruiz-Ortiz, E, Campistol, JM, Souto, A, Cañellas, J, Nakagawa, K, Nishikomori, R, Yagüe, J, Arostegui, JI
Publicado no Pediatr Rheumatol Online J (2015)

A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis

Por Arostegui, JI, Rabionet, R, Remesal, A, Mensa-Vilaro, A, Murias, S, Alcobendas, R, Gonzalez-Roca, E, Dreschsel, O, Ruiz-Ortiz, E, Puig, A, Comas, D, Ossowski, S, Yagüe, J, Estivill, X, Merino, R
Publicado no Pediatr Rheumatol Online J (2015)

NOD2 mosaicism in Blau syndrome

Por Mensa-Vilaro, A, De Inocencio, J, Cham, W Tarng, Gonzalez-Roca, E, Tejada-Palacios, P, Tang, S Ping, Ruiz-Ortiz, E, Enriquez-Merayo, E, Lim, S Chin, Magri, G, Plaza, S, Anton, MC, Cerutti, A, Ariffin, R, Yagüe, J, Arostegui, JI
Publicado no Pediatr Rheumatol Online J (2015)

PW02-007 - The Eurofever registry: 3 years of enrollment

Por Federici, S, Frenkel, J, Ozen, S, Jordi, A, Arostegui, JI, De Benedetti, F, Dolezalova, P, Girschick, H, Hentgen, V, Hofer, M, Lachmann, H, Koné-Paut, I, Kuemmerle-Deschner, J, Neven, B, Ozdogan, H, Rose, C, Simon, A, Stojanov, S, Toplak, N, Touitou, I, Vesely, R, Woo, P, Wouters, C, Ruperto, N, Martini, A, Gattorno, M
Publicado em 2013

PReS-FINAL-2337: The eurofever registry: 3 years of enrollment

Por Federici, S, Frenkel, J, Ozen, S, Antòn, J, Arostegui, JI, De Benedetti, F, Dolezalova, P, Girschick, H, Hentgen, V, Hofer, M, Lachmann, H, Koné-Paut, I, Kuemmerle-Deschner, J, Neven, B, Ozdogan, H, Rose, C, Simon, A, Stojanov, S, Toplak, N, Touitou, I, Vesely, R, Woo, P, Wouters, C, Ruperto, N, Martini, A, Gattorno, M
Publicado em 2013

Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency

Por Ruiz-Ortiz, E, Gonzalez-Roca, E, Mensa-Vilaro, A, Rius, J, Plaza, S, Anton, C, Calvo, I, Modesto, C, Anton, J, Arnal, C, Alvarez, C, Alvarez-Coca, J, Becerra, E, Bilbao, N, Camacho, M, Crespo, J, de Diego, C, Diez-Garcia, LF, Espinosa, L, Garcia-Escriva, D, de Gracia, F, Gonzalez, MI, Iglesias, E, Izquierdo, S, Lastra, B, Llobet, P, Lopez, B, Lopez-Gonzalez, V, Martinez, R, Martin-Mateos, MA, Merino, R, Ortega, L, Peiro, ME, de Soto, I Perez, Perez-Mendez, C, Rodriguez-Valverde, V, Ribes, A, Ruiz, A, Sanchez, B, Santos, JL, Sevilla, B, Sotoca, J, Vilas, J, Villoria, A, Yagüe, J, Arostegui, JI
Publicado no Pediatr Rheumatol Online J (2015)