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Case Report: Hydroa vacciniforme-like lymphoproliferative disorder, an EBV-associated disease, successfully treated with hematopoietic stem cell transplantation.
Liquidano-Perez E, Maza-Ramos G, Yamazaki-Nakashimada M, Rodríguez-Jurado R, Ramírez Ristori AG, Bustamante-Ogando JC, Cruz-Munoz ME, Gutierrez-Guerrero A, Saez-de-Ocariz M, Espinosa-Padilla S, Ramirez-Uribe N, Scheffler-Mendoza SC. Liquidano-Perez E, et al. Among authors: scheffler mendoza sc. Front Immunol. 2025 Mar 21;16:1511385. doi: 10.3389/fimmu.2025.1511385. eCollection 2025. Front Immunol. 2025. PMID: 40191186 Free PMC article.
Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.
Zhen X, Betti MJ, Kars ME, Patterson AR, Medina-Torres EA, Scheffler Mendoza SC, Herrera Sánchez DA, Lopez-Herrera G, Svyryd Y, Mutchinick OM, Gamazon ER, Rathmell JC, Itan Y, Markle J, O'Farrill Romanillos P, Lugo-Reyes SO, Martinez-Barricarte R. Zhen X, et al. Among authors: scheffler mendoza sc. J Clin Immunol. 2024 Dec 4;45(1):53. doi: 10.1007/s10875-024-01836-0. J Clin Immunol. 2024. PMID: 39630167 Free PMC article.
Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.
Zhen X, Betti M, Kars ME, Patterson A, Medina-Torres EA, Scheffler Mendoza SC, Herrera Sánchez DA, Lopez-Herrera G, Svyryd Y, Mutchinick O, Gamazon E, Rathmell J, Itan Y, Markle J, O'Farrill Romanillos P, Lugo-Reyes SO, Martinez-Barricarte R. Zhen X, et al. Among authors: scheffler mendoza sc. Res Sq [Preprint]. 2024 Jul 11:rs.3.rs-4595246. doi: 10.21203/rs.3.rs-4595246/v1. Res Sq. 2024. Update in: J Clin Immunol. 2024 Dec 4;45(1):53. doi: 10.1007/s10875-024-01836-0. PMID: 39041036 Free PMC article. Updated. Preprint.
Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.
Zhen X, Betti MJ, Kars ME, Patterson A, Medina-Torres EA, Scheffler Mendoza SC, Herrera Sánchez DA, Lopez-Herrera G, Svyryd Y, Mutchinick OM, Gamazon E, Rathmell JC, Itan Y, Markle J, O'Farrill Romanillos P, Lugo-Reyes SO, Martinez-Barricarte R. Zhen X, et al. Among authors: scheffler mendoza sc. medRxiv [Preprint]. 2024 May 14:2024.05.13.24307299. doi: 10.1101/2024.05.13.24307299. medRxiv. 2024. Update in: J Clin Immunol. 2024 Dec 4;45(1):53. doi: 10.1007/s10875-024-01836-0. PMID: 38798393 Free PMC article. Updated. Preprint.
Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency.
Liquidano-Perez E, Maza-Ramos G, Perez Arias BA, Lugo Reyes SO, Barragan Arevalo T, Solorzano-Morales SA, Venegas Montoya E, Staines-Boone AT, Guzmán Cotaya R, Okada S, Picard C, Patin E, Ramirez-Uribe N, Bustamante-Ogando JC, Scheffler-Mendoza SC, Yamazaki-Nakashimada MA, Saez-de-Ocariz M, Espinosa Padilla SE, Gonzalez-Serrano ME. Liquidano-Perez E, et al. Among authors: scheffler mendoza sc. Pediatr Allergy Immunol. 2024 Feb;35(2):e14073. doi: 10.1111/pai.14073. Pediatr Allergy Immunol. 2024. PMID: 38351896
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.
Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity.
Castano-Jaramillo LM, Larrauri FR, Scheffler-Mendoza SC, Gutierrez-Hernandez A, Ogando JCB, Colin P, Cisneros MO, Rajme-López S, Medina-Torres EA, Ruiz LB, Rodriguez-Lozano AL, Padilla SEE, Yamazaki-Nakashimada MA, Reyes SOL. Castano-Jaramillo LM, et al. Among authors: scheffler mendoza sc. J Genet. 2023;102:53. J Genet. 2023. PMID: 38073170 Free article.
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.
28 results