Dynamics of plasma cytokines in a patient with deficiency of interleukin‐36 receptor antagonist successfully treated with anakinra von Podlipnik, S., Morgado‐Carrasco, D., Fustà‐Novell, X., Mensa‐Vilaró, A., Arostegui, J.I., Alsina‐Gibert, M., Mascaró Jr, J.M.

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Pragmatic, open-label, single-center, randomized, phase II clinical trial to evaluate the efficacy and safety of methylprednisolone pulses and tacrolimus in patients with severe pn... von Solanich, X., Antolí, A., Padullés, N., Fanlo-Maresma, M., Iriarte, A., Mitjavila, F., Capdevila, O., Molina, M., Sabater, J., Bas, J., Mensa-Vilaró, A., Niubó, J., Calvo, N., Bolivar, S., Rigo-Bonnin, R., Arregui, L., Tebé, C., Hereu, P., Videla, S., Corbella, X.

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Acquired Cold Urticaria vs. Autoinflammatory Diseases, Genetic and Clinical Profile and Differential Diagnosis: Study of a Cohort of Patients in a Tertiary Reference Centre von Deza, Gustavo, Mensa-Vilaró, Anna, March-Rodriguez, Alvaro, Sánchez, Silvia, Pujol, Ramon M, Aróstegui, Juan I, Giménez-Arnau, Ana M

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

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Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes von Bujan-Rivas, Segundo, Basagaña, Maria, Sena, Francisca, Méndez, Maria, Dordal, Maria Teresa, Gonzalez-Roca, Eva, Ruiz-Ortiz, Estibaliz, Mensa-Vilaró, Anna, Plaza, Susana, Modesto, Consuelo, Ordi-Ros, Josep, Yagüe, Jordi, Martínez-Valle, Ferrán, Aróstegui, Juan Ignacio

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Development of a workflow to analyze autoinflammatory-associated genes using AccessArray™ system and next generation sequencing von Gonzalez-Roca, E, Ruiz-Ortiz, E, Anton, MC, Plaza, S, Mensa-Vilaro, A, Yagüe, J, Arostegui, JI

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

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Somatic NLRP3 mosaicism in Muckle-Wells syndrome von 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

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NOD2 mosaicism in Blau syndrome von 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

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Pragmatic, open-label, single-center, randomized, phase II clinical trial to evaluate the efficacy and safety of methylprednisolone pulses and tacrolimus in patients with severe pn... von Solanich, Xavier, Antolí, Arnau, Padullés Zamora, Núria, Fanlo Maresma, Marta, Iriarte, Adriana, Mitjavila Villeró, Francesca, Capdevila, Olga, Molina Molina, María, Sabater, Joan, Bas, J, Mensa Vilaró, A, Niubó, Jordi, Calvo, N, Bolivar, S, Rigo Bonnin, Raúl, Arregui, Laura, Tebé, Cristian, Hereu Boher, Pilar, Videla, Sebas, Corbella, Xavier

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Genetic and clinical features of cryopyrin-associated periodic syndromes in Turkish children von Eroglu, Fehime Kara, Kasapcopur, Ozgür, Beşbaş, Nesrin, Ozaltin, Fatih, Bilginer, Yelda, Barut, Kenan, Mensa-Vilaro, Anna, Nakagawa, Kenji, Heike, Toshio, Nishikomori, Ryuta, Arostegui, Juan, Ozen, Seza

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Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency von 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

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First Description of Late‐Onset Autoinflammatory Disease Due to Somatic NLRC4 Mosaicism von Ionescu, Daniela, Peñín‐Franch, Alejandro, Mensa‐Vilaró, Anna, Castillo, Paola, Hurtado‐Navarro, Laura, Molina‐López, Cristina, Romero‐Chala, Silvia, Plaza, Susana, Fabregat, Virginia, Buján, Segundo, Marques, Joana, Casals, Ferran, Yagüe, Jordi, Oliva, Baldomero, Fernández‐Pereira, Luis Miguel, Pelegrín, Pablo, Aróstegui, Juan I.

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ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era von Shinar, Y, Ceccherini, I, Rowczenio, D, Aksentijevich, I, Arostegui, J, Ben-Chétrit, E, Boursier, G, Gattorno, M, Hayrapetyan, H, Ida, H, Kanazawa, N, Lachmann, HJ, Mensa-Vilaro, A, Nishikomori, R, Oberkanins, C, Obici, L, Ohara, O, Ozen, S, Sarkisian, T, Sheils, K, Wolstenholme, N, Zonneveld-Huijssoon, E, van Gijn, ME, Touitou, I

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Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations von Martin-Nalda, A, Fortuny, C, Rey, L, Bunney, TD, Alsina, L, Esteve-Sole, A, Bull, D, Carmen Anton, M, Basagana, M, Casals, F, Deya, A, Garcia-Prat, M, Gimeno, R, Juan, M, Martinez-Banaclocha, H, Martinez-Garcia, JJ, Mensa-Vilaro, A, Rabionet, R, Martin-Begue, N, Rudilla, F, Yague, J, Estivill, X, Garcia-Patos, V, Pujol, RM, Soler-Palacin, P, Katan, M, Pelegrin, P, Colobran, R, Vicente, A, Arostegui, J

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Assessment of the gene mosaicism burden in blood and its implications for immune disorders von Solís-Moruno, Manuel, Mensa-Vilaró, Anna, Batlle-Masó, Laura, Lobón, Irene, Bonet, Núria, Marquès-Bonet, Tomàs, Aróstegui, Juan I., Casals, Ferran

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Early‐onset recurrent panniculitis as a phenotype of NLRC4‐associated autoinflammatory syndrome: Characterization of pathogenicity of the p.Ser445Pro NLRC4 variant von Gil‐Lianes, Javier, Gariup, Giuseppe, Iranzo‐Fernández, Pilar, Mensa‐Vilaró, Anna, Peñín‐Franch, Alejandro, Hurtado‐Navarro, Laura, Pelegrin, Pablo, Aróstegui, Juan I.

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Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations von Martín-Nalda, Andrea, Fortuny, Claudia, Rey, Lourdes, Bunney, Tom D., Alsina, Laia, Esteve-Solé, Ana, Bull, Daniel, Anton, Maria Carmen, Basagaña, María, Casals, Ferran, Deyá, Angela, García-Prat, Marina, Gimeno, Ramon, Juan, Manel, Martinez-Banaclocha, Helios, Martinez-Garcia, Juan J, Mensa-Vilaró, Anna, Rabionet, Raquel, Martin-Begue, Nieves, Rudilla, Francesc, Yagüe, Jordi, Estivill, Xavier, García-Patos, Vicente, Pujol, Ramon M., Soler-Palacín, Pere, Katan, Matilda, Pelegrín, Pablo, Colobran, Roger, Vicente, Asun, Arostegui, Juan I.

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Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis von Rabionet, Raquel, Remesal, Agustín, Mensa-Vilaró, Anna, Murías, Sara, Alcobendas, Rosa, González-Roca, Eva, Ruiz-Ortiz, Estibaliz, Antón, Jordi, Iglesias, Estibaliz, Modesto, Consuelo, Comas, David, Puig, Anna, Drechsel, Oliver, Ossowski, Stephan, Yagüe, Jordi, Merino, Rosa, Estivill, Xavier, Arostegui, Juan I.

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Chilblains outbreak during COVID‐19 pandemic: A Type‐I interferonopathy? von Mensa‐Vilaró, Anna, Vicente, Asunción, Español‐Rego, Marta, Antón, Jordi, Fabregat, Virginia, Fortuny, Claudia, González, Europa Azucena, Fumadó, Victoria, González‐Roca, Eva, Jou, Cristina, Plaza, Susana, Mosquera, Juan Manuel, Yagüe, Jordi, Prat, Carolina, Pascal, Mariona, Juan, Manel, Arostegui, Juan I., Baselga, Eulalia, Alsina, Laia

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