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23 results

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Page 1
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velas… See abstract for full author list ➔ Leiding JW, et al. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 Free PMC article.
Diagnostic and therapeutic caveats in Griscelli syndrome.
Castaño-Jaramillo LM, Lugo-Reyes SO, Cruz Muñoz ME, Scheffler-Mendoza SC, Duran McKinster C, Yamazaki-Nakashimada MA, Espinosa-Padilla SE, Saez-de-Ocariz Gutierrez MDM. Castaño-Jaramillo LM, et al. Among authors: scheffler mendoza sc. Scand J Immunol. 2021 Jun;93(6):e13034. doi: 10.1111/sji.13034. Epub 2021 Mar 20. Scand J Immunol. 2021. PMID: 33660295 Free article. Review.
Juvenile Dermatomyositis Triggered by SARS-CoV-2.
Liquidano-Perez E, García-Romero MT, Yamazaki-Nakashimada M, Maza-Morales M, Rivas-Calderón MK, Bayardo-Gutierrez B, Pardo-Díaz E, Scheffler-Mendoza SC. Liquidano-Perez E, et al. Among authors: scheffler mendoza sc. Pediatr Neurol. 2021 Aug;121:26-27. doi: 10.1016/j.pediatrneurol.2021.05.011. Epub 2021 May 20. Pediatr Neurol. 2021. PMID: 34126319 Free PMC article. No abstract available.
Is Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature.
Vásquez-Echeverri E, Yamazaki-Nakashimada MA, Venegas Montoya E, Scheffler Mendoza SC, Castano-Jaramillo LM, Medina-Torres EA, González-Serrano ME, Espinosa-Navarro M, Bustamante Ogando JC, González-Villarreal MG, Ortega Cisneros M, Valencia Mayoral PF, Consuelo Sanchez A, Varela-Fascinetto G, Ramírez-Uribe RMN, Salazar Gálvez Y, Bonifaz Alonzo LC, Fuentes-Pananá EM, Gómez Hernández N, Rojas Maruri CM, Casanova JL, Espinosa-Padilla SE, Staines Boone AT, López-Velázquez G, Boisson B, Lugo Reyes SO. Vásquez-Echeverri E, et al. Among authors: scheffler mendoza sc. J Allergy Clin Immunol Pract. 2023 Apr;11(4):1261-1280.e8. doi: 10.1016/j.jaip.2022.12.045. Epub 2023 Jan 25. J Allergy Clin Immunol Pract. 2023. PMID: 36708766 Free PMC article. Review.
Amaurosis as an initial presentation of Takayasu arteritis in children.
Bayardo-Gutiérrez B, Yamazaki-Nakashimada MA, Rodríguez-Lozano AL, Gómez-Garza G, Rivas-Larrauri FE, Gutiérrez-Hernández JA, Scheffler-Mendoza SC. Bayardo-Gutiérrez B, et al. Among authors: scheffler mendoza sc. Rheumatol Int. 2023 Mar;43(3):575-587. doi: 10.1007/s00296-022-05115-2. Epub 2022 Apr 2. Rheumatol Int. 2023. PMID: 35366089 Review.
Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations.
Rae W, Sowerby JM, Verhoeven D, Youssef M, Kotagiri P, Savinykh N, Coomber EL, Boneparth A, Chan A, Gong C, Jansen MH, du Long R, Santilli G, Simeoni I, Stephens J, Wu K, Zinicola M, Allen HL, Baxendale H, Kumararatne D, Gkrania-Klotsas E, Scheffler Mendoza SC, Yamazaki-Nakashimada MA, Ruiz LB, Rojas-Maruri CM, Lugo Reyes SO, Lyons PA, Williams AP, Hodson DJ, Bishop GA, Thrasher AJ, Thomas DC, Murphy MP, Vyse TJ, Milner JD, Kuijpers TW, Smith KGC. Rae W, et al. Among authors: scheffler mendoza sc. Sci Immunol. 2022 Aug 12;7(74):eabn3800. doi: 10.1126/sciimmunol.abn3800. Epub 2022 Aug 12. Sci Immunol. 2022. PMID: 35960817
Infections With Enterohepatic Non-H. pylori Helicobacter Species in X-Linked Agammaglobulinemia: Clinical Cases and Review of the Literature.
Romo-Gonzalez C, Bustamante-Ogando JC, Yamazaki-Nakashimada MA, Aviles-Jimenez F, Otero-Mendoza F, Espinosa-Rosales FJ, Espinosa-Padilla SE, Scheffler Mendoza SC, Durán-McKinster C, García-Romero MT, Saez-de-Ocariz M, Lopez-Herrera G. Romo-Gonzalez C, et al. Among authors: scheffler mendoza sc. Front Cell Infect Microbiol. 2022 Feb 4;11:807136. doi: 10.3389/fcimb.2021.807136. eCollection 2021. Front Cell Infect Microbiol. 2022. PMID: 35186782 Free PMC article. Review.
Lymphomatoid granulomatosis in a patient with DOCK8 deficiency.
Liquidano-Perez E, Alva-Chaire ADC, Yamazaki-Nakashimada MA, Pesantez Abril ÁA, Solorzano Morales SA, Ramírez Ristori AG, Barragán Arévalo T, Gonzalez-Serrano ME, Scheffler-Mendoza SC, Rodríguez-Jurado R. Liquidano-Perez E, et al. Among authors: scheffler mendoza sc. Pediatr Allergy Immunol. 2022 Jun;33(6):e13804. doi: 10.1111/pai.13804. Pediatr Allergy Immunol. 2022. PMID: 35754125 No abstract available.
Combined Treatment of Progressive Encephalitis in an X-linked Agammaglobulinemia Patient.
Yamazaki-Nakashimada MA, Herrera-Mora P, Mahrx-Bracho A, López-Herrera G, Bustamante-Ogando JC, Scheffler-Mendoza SC. Yamazaki-Nakashimada MA, et al. Among authors: scheffler mendoza sc. Iran J Allergy Asthma Immunol. 2023 Oct 29;22(5):504-509. doi: 10.18502/ijaai.v22i5.13999. Iran J Allergy Asthma Immunol. 2023. PMID: 38085151 Free article. Review.
Not enough by half: NFAT5 haploinsufficiency in two patients with Epstein-Barr virus susceptibility.
Lopez-Rivera DO, Castano-Jaramillo LM, Yamazaki-Nakashimada MA, Ramirez Uribe RMN, Corcuera Delgado CT, Ignorosa-Arellano KR, Medina-Torres EA, Berrón Ruiz L, Espinosa-Padilla SE, Scheffler-Mendoza SC, López-Velázquez G, Cruz-Munoz ME, Lugo Reyes SO. Lopez-Rivera DO, et al. Among authors: scheffler mendoza sc. Front Immunol. 2022 Sep 27;13:959733. doi: 10.3389/fimmu.2022.959733. eCollection 2022. Front Immunol. 2022. PMID: 36238298 Free PMC article. Review.
23 results