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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: ferreira cerdan a. Clin Immunol. 2017 Jun;179:77-80. doi: 10.1016/j.clim.2017.03.004. Epub 2017 Mar 14. Clin Immunol. 2017. PMID: 28302518
New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy.
Bravo García-Morato M, Aracil Santos FJ, Briones AC, Blázquez Moreno A, Del Pozo Maté Á, Domínguez-Soto Á, Beato Merino MJ, Del Pino Molina L, Torres Canizales J, Marin AV, Vallespín García E, Feito Rodríguez M, Plaza López Sabando D, Jiménez-Reinoso A, Mozo Del Castillo Y, Sanz Santaeufemia FJ, de Lucas-Laguna R, Cárdenas PP, Casamayor Polo L, Coronel Díaz M, Valés-Gómez M, Roldán Santiago E, Ferreira Cerdán A, Nevado Blanco J, Corbí ÁL, Reyburn HT, Regueiro JR, López-Granados E, Rodríguez Pena R. Bravo García-Morato M, et al. Among authors: ferreira cerdan a. J Allergy Clin Immunol. 2018 May;141(5):1924-1927.e18. doi: 10.1016/j.jaci.2017.12.995. Epub 2018 Mar 2. J Allergy Clin Immunol. 2018. PMID: 29408330 No abstract available.
Chronic granulomatous disease caused by maternal uniparental isodisomy of chromosome 16.
Bravo García-Morato M, Nevado J, González-Granado LI, Sastre Urgelles A, Rodríguez Pena R, Ferreira Cerdán A. Bravo García-Morato M, et al. Among authors: ferreira cerdan a. J Allergy Clin Immunol Pract. 2017 Jul-Aug;5(4):1146-1148. doi: 10.1016/j.jaip.2017.01.018. Epub 2017 Mar 21. J Allergy Clin Immunol Pract. 2017. PMID: 28341171 No abstract available.
Clinical Features Before Hematopoietic Stem Cell Transplantation or Enzyme Replacement Therapy of Children With Combined Immunodeficiency.
Méndez-Echevarría A, Del Rosal T, Pérez-Costa E, Rodríguez-Pena R, Zarauza A, Ferreira-Cerdán A, Bravo M, Mellado MJ, López-Granados E. Méndez-Echevarría A, et al. Among authors: ferreira cerdan a. Pediatr Infect Dis J. 2016 Jul;35(7):794-8. doi: 10.1097/INF.0000000000001157. Pediatr Infect Dis J. 2016. PMID: 27078120
[Molecular diagnosis of primary immunodeficiencies].
García Rodríguez MC, López Granados E, Cambronero Martínez R, Ferreira Cerdán A, Fontán Casariego G. García Rodríguez MC, et al. Among authors: ferreira cerdan a. Allergol Immunopathol (Madr). 2001 May-Jun;29(3):107-13. doi: 10.1016/s0301-0546(01)79028-3. Allergol Immunopathol (Madr). 2001. PMID: 11434883 Review. Spanish.
Kinase activity and XLA phenotypic variability.
Pérez de Diego R, López Granados E, Ferreira Cerdán A, Fontán Casariego G, García Rodríguez MC. Pérez de Diego R, et al. Among authors: ferreira cerdan a. J Allergy Clin Immunol. 2005 Jan;115(1):205-6. doi: 10.1016/j.jaci.2004.07.059. J Allergy Clin Immunol. 2005. PMID: 15637572 No abstract available.
Actin polymerisation after FCγR stimulation of human fibroblasts is BCL10 independent.
Garcia-Gomez S, Alvarez Doforno R, Martinez-Barricarte R, Torres JM, Ferreira Cerdan A, Davila M, Hernández-Jiménez E, Toledano V, Cubillos-Zapata C, Vallejo-Cremades MT, López-Collazo E, Fernández Arquero M, Sánchez-Ramón S, Casanova JL, Pérez de Diego R. Garcia-Gomez S, et al. Among authors: ferreira cerdan a. Clin Immunol. 2016 Feb;163:120-2. doi: 10.1016/j.clim.2016.01.003. Epub 2016 Jan 14. Clin Immunol. 2016. PMID: 26774590
Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity.
Pérez de Diego R, Sánchez-Ramón S, López-Collazo E, Martínez-Barricarte R, Cubillos-Zapata C, Ferreira Cerdán A, Casanova JL, Puel A. Pérez de Diego R, et al. Among authors: ferreira cerdan a. J Allergy Clin Immunol. 2015 Nov;136(5):1139-49. doi: 10.1016/j.jaci.2015.06.031. Epub 2015 Aug 12. J Allergy Clin Immunol. 2015. PMID: 26277595 Free PMC article. Review.
14 results