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Properdin deficiency associated with systemic meningococcal disease due to a novel p.Cys337Arg pathogenic variant.
González-Sánchez L, Agudo AM, Van Den Rym A, Begiristain MI, Saizar A, Pérez de Diego R, Nozal P, López-Lera A, López-Trascasa M, Corvillo F. González-Sánchez L, et al. Among authors: lopez lera a. Genes Dis. 2023 Oct 4;11(6):101134. doi: 10.1016/j.gendis.2023.101134. eCollection 2024 Nov. Genes Dis. 2023. PMID: 39100201 Free PMC article. No abstract available.
Altered levels of phospholipases C, diacylglycerols, endocannabinoids, and N-acylethanolamines in patients with hereditary angioedema due to FXII mutation.
Ferrara AL, Palestra F, Piscitelli F, Petraroli A, Suffritti C, Firinu D, López-Lera A, Caballero T, Bork K, Spadaro G, Marone G, Di Marzo V, Bova M, Loffredo S. Ferrara AL, et al. Among authors: lopez lera a. Allergy. 2024 Jun 27. doi: 10.1111/all.16197. Online ahead of print. Allergy. 2024. PMID: 38935036
Inherited Human BCL10 Deficiencies.
Alsaidalani AA, García-Solís B, Bukhari E, Van Den Rym A, López-Collazo E, Sánchez-Ramón S, Corvillo F, López-Lera A, de Andrés A, Martínez-Barricarte R, Perez de Diego R. Alsaidalani AA, et al. Among authors: lopez lera a. J Clin Immunol. 2023 Dec 22;44(1):13. doi: 10.1007/s10875-023-01619-z. J Clin Immunol. 2023. PMID: 38129623 Free PMC article. Review.
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: lopez lera a. 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.
SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE.
Drouet C, López-Lera A, Ghannam A, López-Trascasa M, Cichon S, Ponard D, Parsopoulou F, Grombirikova H, Freiberger T, Rijavec M, Veronez CL, Pesquero JB, Germenis AE. Drouet C, et al. Among authors: lopez lera a. Front Allergy. 2022 Mar 31;3:835503. doi: 10.3389/falgy.2022.835503. eCollection 2022. Front Allergy. 2022. PMID: 35958943 Free PMC article. Review.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Complement Factor D (adipsin) Levels Are Elevated in Acquired Partial Lipodystrophy (Barraquer-Simons syndrome).
Corvillo F, González-Sánchez L, López-Lera A, Arjona E, Ceccarini G, Santini F, Araújo-Vilar D, Brown RJ, Villarroya J, Villarroya F, Rodríguez de Córdoba S, Caballero T, Nozal P, López-Trascasa M. Corvillo F, et al. Among authors: lopez lera a. Int J Mol Sci. 2021 Jun 21;22(12):6608. doi: 10.3390/ijms22126608. Int J Mol Sci. 2021. PMID: 34205507 Free PMC article.
Thrombin in the Activation of the Fluid Contact Phase in Patients with Hereditary Angioedema Carrying the F12 P.Thr309Lys Variant.
López-Gálvez R, de la Morena-Barrio ME, Miñano A, Pathak M, Marcos C, Emsley J, Caballero T, López-Trascasa M, Vicente V, Corral J, López-Lera A. López-Gálvez R, et al. Among authors: lopez lera a. Clin Rev Allergy Immunol. 2021 Jun;60(3):357-368. doi: 10.1007/s12016-021-08840-x. Epub 2021 Mar 16. Clin Rev Allergy Immunol. 2021. PMID: 33725261
41 results