1993 …2020

Research output per year

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Research Output

  • A child with a novel ACAN missense variant mimicking a septic arthritis

    Florio, A., Papa, R., Caorsi, R., Consolaro, A., Gastaldi, R., Gattorno, M. & Picco, P., Nov 20 2019, In : Ital. J. Pediatr.. 45, 1, p. 148

    Research output: Contribution to journalArticle

  • A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

    Volpi, S., Cicalese, M. P., Tuijnenburg, P., Tool, A. T. J., Cuadrado, E., Abu-Halaweh, M., Ahanchian, H., Alzyoud, R., Akdemir, Z. C., Barzaghi, F., Blank, A., Boisson, B., Bottino, C., Brigida, I., Caorsi, R., Casanova, J-L., Chiesa, S., Chinn, I. K., Dückers, G., Enders, A. & 32 others, Erichsen, H. C., Forbes, L. R., Gambin, T., Gattorno, M., Karimiani, E. G., Giliani, S., Gold, M. S., Jacobsen, E-M., Jansen, M. H., King, J. R., Laxer, R. M., Lupski, J. R., Mace, E., Marcenaro, S., Maroofian, R., Meijer, A. B., Niehues, T., Notarangelo, L. D., Orange, J., Pannicke, U., Pearson, C., Picco, P., Quinn, P. J., Schulz, A., Seeborg, F., Stray-Pedersen, A., Tawamie, H., van Leeuwen, E. M. M., Aiuti, A., Yeung, R., Schwarz, K. & Kuijpers, T. W., Jun 2019, In : Journal of Allergy and Clinical Immunology. 143, 6, p. 2296-2299 4 p.

    Research output: Contribution to journalArticle

    ADA2 deficiency due to a novel structural variation in 22q11.1

    Grossi, A., Cusano, R., Rusmini, M., Penco, F., Schena, F., Podda, R. A., Caorsi, R., Gattorno, M., Uva, P. & Ceccherini, I., Jun 2019, In : Clinical Genetics. 95, 6, p. 732-733 2 p.

    Research output: Contribution to journalArticle

    An international delphi survey for the definition of new classification criteria for familial mediterranean fever, mevalonate kinase deficiency, TNF receptor-associated periodic fever syndromes, and cryopyrin-associated periodic syndrome

    Federici, S., Vanoni, F., Ben-Chetrit, E., Cantarini, L., Frenkel, J., Goldbach-Mansky, R., Gul, A., Hoffman, H., Koné-Paut, I., Kuemmerle-Deschner, J., Lachmann, H. J., Martini, A., Obici, L., Ozen, S., Simon, A., Hofer, M. & Gattorno, M., 2019, In : Journal of Rheumatology. 46, 4, p. 429-436 8 p.

    Research output: Contribution to journalArticle