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Page 1
Inherited human ezrin deficiency impairs adaptive immunity.
García-Solís B, Van Den Rym A, Martinez-Martínez L, Franco T, Pérez-Caraballo JJ, Markle J, Cubillos-Zapata C, Marín AV, Recio MJ, Regueiro JR, Navarro-Zapata A, Mestre-Durán C, Ferreras C, Martín Cotázar C, Mena R, de la Calle-Fabregat C, López-Lera A, Fernández Arquero M, Pérez-Martínez A, López-Collazo E, Sánchez-Ramón S, Casanova JL, Martínez-Barricarte R, de la Calle-Martín O, Pérez de Diego R. García-Solís B, et al. Among authors: de la calle martin o. J Allergy Clin Immunol. 2023 Oct;152(4):997-1009.e11. doi: 10.1016/j.jaci.2023.05.022. Epub 2023 Jun 8. J Allergy Clin Immunol. 2023. PMID: 37301410 Free PMC article.
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases.
Mensa-Vilaró A, Bravo García-Morato M, de la Calle-Martin O, Franco-Jarava C, Martínez-Saavedra MT, González-Granado LI, González-Roca E, Fuster JL, Alsina L, Mutchinick OM, Balderrama-Rodríguez A, Ramos E, Modesto C, Mesa-Del-Castillo P, Ortego-Centeno N, Clemente D, Souto A, Palmou N, Remesal A, Leslie KS, Gómez de la Fuente E, Yadira Bravo Gallego L, Campistol JM, Dhouib NG, Bejaoui M, Dutra LA, Terreri MT, Mosquera C, González T, Cañellas J, García-Ruiz de Morales JM, Wouters CH, Bosque MT, Cham WT, Jiménez-Treviño S, de Inocencio J, Bloomfield M, Pérez de Diego R, Martínez-Pomar N, Rodríguez-Pena R, González-Santesteban C, Soler-Palacín P, Casals F, Yagüe J, Allende LM, Rodríguez-Gallego JC, Colobran R, Martínez-Martínez L, López-Granados E, Aróstegui JI. Mensa-Vilaró A, et al. Among authors: de la calle martin o. J Allergy Clin Immunol. 2019 Jan;143(1):359-368. doi: 10.1016/j.jaci.2018.09.009. Epub 2018 Sep 29. J Allergy Clin Immunol. 2019. PMID: 30273710 Free article. Clinical Trial.
From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family.
Martinez-Martinez L, Vazquez-Ortiz M, Gonzalez-Santesteban C, Martin-Nalda A, Vicente A, Plaza AM, Badell I, Alsina L, de la Calle-Martin O. Martinez-Martinez L, et al. Among authors: de la calle martin o. Pediatr Allergy Immunol. 2012 Nov;23(7):660-6. doi: 10.1111/j.1399-3038.2012.01339.x. Epub 2012 Aug 13. Pediatr Allergy Immunol. 2012. PMID: 22882342
A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis.
Martinez-Martinez L, Martinez-Saavedra MT, Fuentes-Prior P, Barnadas M, Rubiales MV, Noda J, Badell I, Rodríguez-Gallego C, de la Calle-Martin O. Martinez-Martinez L, et al. Among authors: de la calle martin o. Mol Immunol. 2015 Dec;68(2 Pt C):597-605. doi: 10.1016/j.molimm.2015.09.014. Mol Immunol. 2015. PMID: 26514428
Chronic hypogammaglobulinemia after allogeneic stem cell transplantation and their treatment with subcutaneous immunoglobulin in pediatric patients.
Serra Font S, López-Granados L, Sisinni L, Serna Berna JV, Martínez Martínez L, Fernández de Gamarra-Martínez E, de la Calle Martín O, Badell Serra I. Serra Font S, et al. Among authors: de la calle martin o. An Pediatr (Engl Ed). 2022 Aug;97(2):103-111. doi: 10.1016/j.anpede.2021.08.010. Epub 2022 Jul 20. An Pediatr (Engl Ed). 2022. PMID: 35869014 Free article.
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de Beaucoudrey L, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, Mirsaeidi M, Khalilzadeh S, Rosenzweig S, de la Calle Martin O, Bauer TR, Puck JM, Ochs HD, Furthner D, Engelhorn C, Belohradsky B, Mansouri D, Holland SM, Schreiber RD, Abel L, Cooper DN, Soudais C, Casanova JL. Vogt G, et al. Nat Genet. 2005 Jul;37(7):692-700. doi: 10.1038/ng1581. Epub 2005 May 29. Nat Genet. 2005. PMID: 15924140
Familial CD8 deficiency due to a mutation in the CD8 alpha gene.
de la Calle-Martin O, Hernandez M, Ordi J, Casamitjana N, Arostegui JI, Caragol I, Ferrando M, Labrador M, Rodriguez-Sanchez JL, Espanol T. de la Calle-Martin O, et al. J Clin Invest. 2001 Jul;108(1):117-23. doi: 10.1172/JCI10993. J Clin Invest. 2001. PMID: 11435463 Free PMC article.
25 results