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Page 1
Pyogenic bacterial infections in humans with MyD88 deficiency.
von Bernuth H, Picard C, Jin Z, Pankla R, Xiao H, Ku CL, Chrabieh M, Mustapha IB, Ghandil P, Camcioglu Y, Vasconcelos J, Sirvent N, Guedes M, Vitor AB, Herrero-Mata MJ, Aróstegui JI, Rodrigo C, Alsina L, Ruiz-Ortiz E, Juan M, Fortuny C, Yagüe J, Antón J, Pascal M, Chang HH, Janniere L, Rose Y, Garty BZ, Chapel H, Issekutz A, Maródi L, Rodriguez-Gallego C, Banchereau J, Abel L, Li X, Chaussabel D, Puel A, Casanova JL. von Bernuth H, et al. Among authors: arostegui ji. Science. 2008 Aug 1;321(5889):691-6. doi: 10.1126/science.1158298. Science. 2008. PMID: 18669862 Free PMC article.
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.
Picard C, von Bernuth H, Ghandil P, Chrabieh M, Levy O, Arkwright PD, McDonald D, Geha RS, Takada H, Krause JC, Creech CB, Ku CL, Ehl S, Maródi L, Al-Muhsen S, Al-Hajjar S, Al-Ghonaium A, Day-Good NK, Holland SM, Gallin JI, Chapel H, Speert DP, Rodriguez-Gallego C, Colino E, Garty BZ, Roifman C, Hara T, Yoshikawa H, Nonoyama S, Domachowske J, Issekutz AC, Tang M, Smart J, Zitnik SE, Hoarau C, Kumararatne DS, Thrasher AJ, Davies EG, Bethune C, Sirvent N, de Ricaud D, Camcioglu Y, Vasconcelos J, Guedes M, Vitor AB, Rodrigo C, Almazán F, Méndez M, Aróstegui JI, Alsina L, Fortuny C, Reichenbach J, Verbsky JW, Bossuyt X, Doffinger R, Abel L, Puel A, Casanova JL. Picard C, et al. Among authors: arostegui ji. Medicine (Baltimore). 2010 Nov;89(6):403-425. doi: 10.1097/MD.0b013e3181fd8ec3. Medicine (Baltimore). 2010. PMID: 21057262 Free PMC article.
Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.
Alsina L, González-Roca E, Giner MT, Piquer M, Puga I, Pascal M, Ruiz-Ortiz E, Badell I, Martín-Mateos MA, Cerutti A, Juan M, Yagüe J, Plaza AM, Aróstegui JI. Alsina L, et al. Among authors: arostegui ji. J Allergy Clin Immunol. 2013 Sep;132(3):741-743.e2. doi: 10.1016/j.jaci.2013.03.038. Epub 2013 May 15. J Allergy Clin Immunol. 2013. PMID: 23683512 No abstract available.
IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.
van de Vosse E, Haverkamp MH, Ramirez-Alejo N, Martinez-Gallo M, Blancas-Galicia L, Metin A, Garty BZ, Sun-Tan Ç, Broides A, de Paus RA, Keskin Ö, Çağdaş D, Tezcan I, Lopez-Ruzafa E, Aróstegui JI, Levy J, Espinosa-Rosales FJ, Sanal Ö, Santos-Argumedo L, Casanova JL, Boisson-Dupuis S, van Dissel JT, Bustamante J. van de Vosse E, et al. Among authors: arostegui ji. Hum Mutat. 2013 Oct;34(10):1329-39. doi: 10.1002/humu.22380. Epub 2013 Aug 8. Hum Mutat. 2013. PMID: 23864330 Free PMC article. Review.
Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.
Hernández-Rodríguez J, Ruíz-Ortiz E, Tomé A, Espinosa G, González-Roca E, Mensa-Vilaró A, Prieto-González S, Espígol-Frigolé G, Mensa J, Cardellach F, Grau JM, Cid MC, Yagüe J, Aróstegui JI, Cervera R. Hernández-Rodríguez J, et al. Among authors: arostegui ji. Autoimmun Rev. 2016 Jan;15(1):9-15. doi: 10.1016/j.autrev.2015.08.008. Epub 2015 Aug 21. Autoimmun Rev. 2016. PMID: 26299986 Review.
Clues to management of neonatally diagnosed BTK deficiency.
Deyà-Martínez A, Esteve-Sole A, Giner MT, Aróstegui JI, Ruiz-Ortiz E, Yagüe J, Juan M, Plaza AM, Alsina L. Deyà-Martínez A, et al. Among authors: arostegui ji. Pediatr Allergy Immunol. 2016 Jun;27(4):428-30. doi: 10.1111/pai.12549. Epub 2016 Mar 16. Pediatr Allergy Immunol. 2016. PMID: 26844683 No abstract available.
169 results