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Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
Bravo García-Morato M, García-Miñaúr S, Molina Garicano J, Santos Simarro F, Del Pino Molina L, López-Granados E, Ferreira Cerdán A, Rodríguez Pena R. Bravo García-Morato M, et al. Among authors: del pino molina l, molina garicano j. Clin Immunol. 2017 Jun;179:77-80. doi: 10.1016/j.clim.2017.03.004. Epub 2017 Mar 14. Clin Immunol. 2017. PMID: 28302518
Defects in memory B-cell and plasma cell subsets expressing different immunoglobulin-subclasses in patients with CVID and immunoglobulin subclass deficiencies.
Blanco E, Pérez-Andrés M, Arriba-Méndez S, Serrano C, Criado I, Del Pino-Molina L, Silva S, Madruga I, Bakardjieva M, Martins C, Serra-Caetano A, Romero A, Contreras-Sanfeliciano T, Bonroy C, Sala F, Martín A, Bastida JM, Lorente F, Prieto C, Dávila I, Marcos M, Kalina T, Vlkova M, Chovancova Z, Cordeiro AI, Philippé J, Haerynck F, López-Granados E, Sousa AE, van der Burg M, van Dongen JJM, Orfao A; EuroFlow PID group. Blanco E, et al. Among authors: del pino molina l. J Allergy Clin Immunol. 2019 Sep;144(3):809-824. doi: 10.1016/j.jaci.2019.02.017. Epub 2019 Feb 28. J Allergy Clin Immunol. 2019. PMID: 30826363 Free article.
Automated identification of leukocyte subsets improves standardization of database-guided expert-supervised diagnostic orientation in acute leukemia: a EuroFlow study.
Lhermitte L, Barreau S, Morf D, Fernandez P, Grigore G, Barrena S, de Bie M, Flores-Montero J, Brüggemann M, Mejstrikova E, Nierkens S, Burgos L, Caetano J, Gaipa G, Buracchi C, da Costa ES, Sedek L, Szczepański T, Aanei CM, van der Sluijs-Gelling A, Delgado AH, Fluxa R, Lecrevisse Q, Pedreira CE, van Dongen JJM, Orfao A, van der Velden VHJ; EuroFlow Consortium. Lhermitte L, et al. Mod Pathol. 2021 Jan;34(1):59-69. doi: 10.1038/s41379-020-00677-7. Epub 2020 Sep 30. Mod Pathol. 2021. PMID: 32999413 Free PMC article.
Dissection of the Pre-Germinal Center B-Cell Maturation Pathway in Common Variable Immunodeficiency Based on Standardized Flow Cytometric EuroFlow Tools.
Del Pino-Molina L, López-Granados E, Lecrevisse Q, Torres Canizales J, Pérez-Andrés M, Blanco E, Wentink M, Bonroy C, Nechvatalova J, Milota T, Kienzler AK, Philippé J, Sousa AE, van der Burg M, Kalina T, van Dongen JJM, Orfao A. Del Pino-Molina L, et al. Front Immunol. 2021 Feb 17;11:603972. doi: 10.3389/fimmu.2020.603972. eCollection 2020. Front Immunol. 2021. PMID: 33679693 Free PMC article.
Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton's tyrosine kinase case-study.
Del Pino-Molina L, Bravo Gallego LY, Soto Serrano Y, Reche Yebra K, Marty Lobo J, González Martínez B, Bravo García-Morato M, Rodríguez Pena R, van der Burg M, López Granados E. Del Pino-Molina L, et al. Front Immunol. 2023 Apr 24;14:1095123. doi: 10.3389/fimmu.2023.1095123. eCollection 2023. Front Immunol. 2023. PMID: 37197664 Free PMC article.
Dissecting Epigenetic Dysregulation of Primary Antibody Deficiencies.
Rodríguez-Cortez VC, Del Pino-Molina L, Rodríguez-Ubreva J, López-Granados E, Ballestar E. Rodríguez-Cortez VC, et al. Among authors: del pino molina l. J Clin Immunol. 2016 May;36 Suppl 1:48-56. doi: 10.1007/s10875-016-0267-4. Epub 2016 Mar 17. J Clin Immunol. 2016. PMID: 26984849 Review.
21 results