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A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells.
Bernard F, Picard C, Cormier-Daire V, Eidenschenk C, Pinto G, Bustamante JC, Jouanguy E, Teillac-Hamel D, Colomb V, Funck-Brentano I, Pascal V, Vivier E, Fischer A, Le Deist F, Casanova JL. Bernard F, et al. Among authors: bustamante jc. Pediatrics. 2004 Jan;113(1 Pt 1):136-41. doi: 10.1542/peds.113.1.136. Pediatrics. 2004. PMID: 14702466
[Innate immunity primary immunodeficiencies and infections].
Duchamp M, Miot C, Bustamante JC, Picard C. Duchamp M, et al. Among authors: bustamante jc. Arch Pediatr. 2016 Jul;23(7):760-8. doi: 10.1016/j.arcped.2016.04.020. Epub 2016 Jun 3. Arch Pediatr. 2016. PMID: 27266636 Review. French.
A multicenter observational study on outcomes of moderate and severe pediatric traumatic brain injuries-time to reappraise thresholds for treatment.
Qadri SK, Lee JH, Zhu Y, Caporal P, Roa G JD, González-Dambrauskas S, Yock-Corrales A, Abbas Q, Kazzaz Y, Shi L, Sri Dewi D, Chong SL; Pediatric Acute, Critical Care Medicine Asian Network (PACCMAN); Pediatric collaborative Latin American network (LARed). Qadri SK, et al. Acta Neurochir (Wien). 2023 Nov;165(11):3197-3206. doi: 10.1007/s00701-023-05741-0. Epub 2023 Sep 20. Acta Neurochir (Wien). 2023. PMID: 37728830
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.
IRF4 International Consortium; Fornes O, Jia A, Kuehn HS, Min Q, Pannicke U, Schleussner N, Thouenon R, Yu Z, de Los Angeles Astbury M, Biggs CM, Galicchio M, Garcia-Campos JA, Gismondi S, Gonzalez Villarreal G, Hildebrand KJ, Hönig M, Hou J, Moshous D, Pittaluga S, Qian X, Rozmus J, Schulz AS, Staines-Boone AT, Sun B, Sun J, Uwe S, Venegas-Montoya E, Wang W, Wang X, Ying W, Zhai X, Zhou Q, Akalin A, André I, Barth TFE, Baumann B, Brüstle A, Burgio G, Bustamante JC, Casanova JL, Casarotto MG, Cavazzana M, Chentout L, Cockburn IA, Costanza M, Cui C, Daumke O, Del Bel KL, Eibel H, Feng X, Franke V, Gebhardt JCM, Götz A, Grunwald S, Hoareau B, Hughes TR, Jacobsen EM, Janz M, Jolma A, Lagresle-Peyrou C, Lai N, Li Y, Lin S, Lu HY, Lugo-Reyes SO, Meng X, Möller P, Moreno-Corona N, Niemela JE, Novakovsky G, Perez-Caraballo JJ, Picard C, Poggi L, Puig-Lombardi ME, Randall KL, Reisser A, Schmitt Y, Seneviratne S, Sharma M, Stoddard J, Sundararaj S, Sutton H, Tran LQ, Wang Y, Wasserman WW, Wen Z, Winkler W, Xiong E, Yang AWH, Yu M, Zhang L, Zhang H, Zhao Q, Zhen X, Enders A, Kracker S, Martinez-Barricarte R, Mathas S, Rosenzweig SD, Schwarz K, Turvey SE, Wang JY. IRF4 International Consortium, et al. Among authors: bustamante jc. Sci Immunol. 2023 Jan 20;8(79):eade7953. doi: 10.1126/sciimmunol.ade7953. Epub 2023 Jan 20. Sci Immunol. 2023. PMID: 36662884 Free PMC article.
Atypical Perfusion Manifestation in Migraine with Aura.
Lester J, Bustamante JC, García-Moreno C, Klériga E. Lester J, et al. Among authors: bustamante jc. Case Rep Neurol. 2021 Oct 12;13(3):672-676. doi: 10.1159/000519508. eCollection 2021 Sep-Dec. Case Rep Neurol. 2021. PMID: 34899251 Free PMC article.
51 results