Pujol-Borrell R - Search Results

1

Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome.

Colobran R, Álvarez de la Campa E, Soler-Palacín P, Martín-Nalda A, Pujol-Borrell R, de la Cruz X, Martínez-Gallo M. Colobran R, et al. Clin Immunol. 2016 Feb;163:60-5. doi: 10.1016/j.clim.2015.12.014. Epub 2015 Dec 31. Clin Immunol. 2016. PMID: 26748374

2

Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.

Colobran R, Lois S, de la Cruz X, Pujol-Borrell R, Hernández-González M, Guilarte M. Colobran R, et al. Clin Immunol. 2014 Feb;150(2):143-8. doi: 10.1016/j.clim.2013.11.013. Epub 2013 Dec 4. Clin Immunol. 2014. PMID: 24412907

3

Novel Mutations Causing C5 Deficiency in Three North-African Families.

Colobran R, Franco-Jarava C, Martín-Nalda A, Baena N, Gabau E, Padilla N, de la Cruz X, Pujol-Borrell R, Comas D, Soler-Palacín P, Hernández-González M. Colobran R, et al. J Clin Immunol. 2016 May;36(4):388-96. doi: 10.1007/s10875-016-0275-4. Epub 2016 Mar 30. J Clin Immunol. 2016. PMID: 27026170

4

Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations.

Dieli-Crimi R, Martínez-Gallo M, Franco-Jarava C, Antolin M, Blasco L, Paramonov I, Semidey ME, Álvarez Fernández A, Molero X, Velásquez J, Martín-Nalda A, Pujol-Borrell R, Colobran R. Dieli-Crimi R, et al. Clin Immunol. 2018 Oct;195:49-58. doi: 10.1016/j.clim.2018.07.015. Epub 2018 Jul 29. Clin Immunol. 2018. PMID: 30063981

5

A novel splice site mutation in the SERPING1 gene leads to haploinsufficiency by complete degradation of the mutant allele mRNA in a case of familial hereditary angioedema.

Colobran R, Pujol-Borrell R, Hernández-González M, Guilarte M. Colobran R, et al. J Clin Immunol. 2014 Jul;34(5):521-3. doi: 10.1007/s10875-014-0042-3. Epub 2014 Apr 24. J Clin Immunol. 2014. PMID: 24760113

6

AIRE genetic variants and predisposition to polygenic autoimmune disease: The case of Graves' disease and a systematic literature review.

Colobran R, Giménez-Barcons M, Marín-Sánchez A, Porta-Pardo E, Pujol-Borrell R. Colobran R, et al. Hum Immunol. 2016 Aug;77(8):643-651. doi: 10.1016/j.humimm.2016.06.002. Epub 2016 Jun 4. Hum Immunol. 2016. PMID: 27266815 Review.

7

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.

Rudilla F, Franco-Jarava C, Martínez-Gallo M, Garcia-Prat M, Martín-Nalda A, Rivière J, Aguiló-Cucurull A, Mongay L, Vidal F, Solanich X, Irastorza I, Santos-Pérez JL, Tercedor Sánchez J, Cuscó I, Serra C, Baz-Redón N, Fernández-Cancio M, Carreras C, Vagace JM, Garcia-Patos V, Pujol-Borrell R, Soler-Palacín P, Colobran R. Rudilla F, et al. Front Immunol. 2019 Oct 1;10:2325. doi: 10.3389/fimmu.2019.02325. eCollection 2019. Front Immunol. 2019. PMID: 31681265 Free PMC article.

8

Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection.

Alsina L, Colobran R, de Sevilla MF, Català A, Viñas L, Ricart S, Plaza AM, Lois S, Juan M, Pujol-Borrell R, Martinez-Gallo M. Alsina L, et al. Clin Immunol. 2014 Aug;153(2):292-7. doi: 10.1016/j.clim.2014.04.019. Epub 2014 May 10. Clin Immunol. 2014. PMID: 24825797

9

Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens.

Giménez-Barcons M, Casteràs A, Armengol Mdel P, Porta E, Correa PA, Marín A, Pujol-Borrell R, Colobran R. Giménez-Barcons M, et al. J Immunol. 2014 Oct 15;193(8):3872-9. doi: 10.4049/jimmunol.1400223. Epub 2014 Sep 12. J Immunol. 2014. PMID: 25217160

10

Clinical laboratory standard capillary protein electrophoresis alerted of a low C3 state and lead to the identification of a Factor I deficiency due to a novel homozygous mutation.

Franco-Jarava C, Colobran R, Mestre-Torres J, Vargas V, Pujol-Borrell R, Hernández-González M. Franco-Jarava C, et al. Immunol Lett. 2016 Jun;174:19-22. doi: 10.1016/j.imlet.2016.04.011. Epub 2016 Apr 14. Immunol Lett. 2016. PMID: 27091480

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