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[Severe combined immunodeficiency, report of chilean patients diagnosed during the 1999-2020 period].
Hoyos-Bachiloglu R, Rojas J, Borzutzky A, Hernández P, Vinet AM, Bustos P, Fernández F, Lagos M, Strickler A, Marinovic MA, Casado C, Poli MC, King A. Hoyos-Bachiloglu R, et al. Among authors: poli mc. Rev Chil Pediatr. 2020 Dec;91(6):908-916. doi: 10.32641/rchped.vi91i6.2580. Epub 2020 Oct 21. Rev Chil Pediatr. 2020. PMID: 33861827 Free article. Spanish.
Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome.
Aird A, Lagos M, Vargas-Hernández A, Posey JE, Coban-Akdemir Z, Jhangiani S, Mace EM, Reyes A, King A, Cavagnaro F, Forbes LR, Chinn IK, Lupski JR, Orange JS, Poli MC. Aird A, et al. Among authors: poli mc. Front Pediatr. 2019 Jul 30;7:303. doi: 10.3389/fped.2019.00303. eCollection 2019. Front Pediatr. 2019. PMID: 31417880 Free PMC article.
Prevalence of filaggrin loss-of-function variants in Chilean population with and without atopic dermatitis.
Cárdenas GV, Iturriaga C, Hernández CD, Tejos-Bravo M, Pérez-Mateluna G, Cabalin C, Urzúa M, Venegas-Salas LF, Fraga JP, Rebolledo B, Poli MC, Repetto GM, Casanello P, Castro-Rodríguez JA, Borzutzky A. Cárdenas GV, et al. Among authors: poli mc. Int J Dermatol. 2022 Mar;61(3):310-315. doi: 10.1111/ijd.15887. Epub 2021 Sep 4. Int J Dermatol. 2022. PMID: 34480753
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.
Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, Frey-Jakobs S, Weidinger S, Moebus L, Franke A, Schäffer AA, Bulashevska A, Fuchs S, Ehl S, Limaye S, Arkwright PD, Briggs TA, Langley C, Bethune C, Whyte AF, Alachkar H, Nejentsev S, DiMaggio T, Nelson CG, Stone KD, Nason M, Brittain EH, Oler AJ, Veltri DP, Leahy TR, Conlon N, Poli MC, Borzutzky A, Cohen JI, Davis J, Lambert MP, Romberg N, Sullivan KE, Paris K, Freeman AF, Lucas L, Chandrakasan S, Savic S, Hambleton S, Patel SY, Jordan MB, Theos A, Lebensburger J, Atkinson TP, Torgerson TR, Chinn IK, Milner JD, Grimbacher B, Cook MC, Snow AL. Dorjbal B, et al. Among authors: poli mc. J Allergy Clin Immunol. 2019 Apr;143(4):1482-1495. doi: 10.1016/j.jaci.2018.08.013. Epub 2018 Aug 28. J Allergy Clin Immunol. 2019. PMID: 30170123 Free PMC article.
Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.
Contreras JL, Ladino MA, Aránguiz K, Mendez GP, Coban-Akdemir Z, Yuan B, Gibbs RA, Burrage LC, Lupski JR, Chinn IK, Vogel TP, Orange JS, Poli MC. Contreras JL, et al. Among authors: poli mc. Front Pediatr. 2021 May 20;9:673957. doi: 10.3389/fped.2021.673957. eCollection 2021. Front Pediatr. 2021. PMID: 34095032 Free PMC article.
Deep immunophenotyping reveals biomarkers of multisystemic inflammatory syndrome in children in a Latin American cohort.
Rey-Jurado E, Espinosa Y, Astudillo C, Jimena Cortés L, Hormazabal J, Noguera LP, Cofré F, Piñera C, González R, Bataszew A, Muñoz Venturelli P, Benadof D, Álvarez P, Acevedo V, Vial P, Vial C, Poli MC. Rey-Jurado E, et al. Among authors: poli mc. J Allergy Clin Immunol. 2022 Nov;150(5):1074-1085.e11. doi: 10.1016/j.jaci.2022.09.006. Epub 2022 Sep 15. J Allergy Clin Immunol. 2022. PMID: 36116582 Free PMC article.
42 results