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Showing 1 to 8 of 8 entries
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Case Report: Combined Liver-Kidney Transplantation to Correct a Mutation in Complement Factor B in an Atypical Hemolytic Uremic Syndrome Patient.

Frontiers in immunology

López-Trascasa M, Alonso-Melgar Á, Melgosa-Hijosa M, Espinosa-Román L, Lledín-Barbancho MD, García-Fernández E, Rodríguez de Córdoba S, Sánchez-Corral P.
PMID: 34721423
Front Immunol. 2021 Oct 14;12:751093. doi: 10.3389/fimmu.2021.751093. eCollection 2021.

Pathogenic gain-of-function variants in complement Factor B were identified as causative of atypical Hemolytic Uremic syndrome (aHUS) in 2007. These mutations generate a reduction on the plasma levels of complement C3. A four-month-old boy was diagnosed with hypocomplementemic aHUS...

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López-Trascasa M, Alonso-Melgar Á, Melgosa-Hijosa M, et al. Case Report: Combined Liver-Kidney Transplantation to Correct a Mutation in Complement Factor B in an Atypical Hemolytic Uremic Syndrome Patient. Front Immunol. 2021;12:751093doi: 10.3389/fimmu.2021.751093.
López-Trascasa, M., Alonso-Melgar, �. �., Melgosa-Hijosa, M., Espinosa-Román, L., Lledín-Barbancho, M. D., García-Fernández, E., Rodríguez de Córdoba, S., & Sánchez-Corral, P. (2021). Case Report: Combined Liver-Kidney Transplantation to Correct a Mutation in Complement Factor B in an Atypical Hemolytic Uremic Syndrome Patient. Frontiers in immunology, 12751093. https://doi.org/10.3389/fimmu.2021.751093
López-Trascasa, Margarita, et al. "Case Report: Combined Liver-Kidney Transplantation to Correct a Mutation in Complement Factor B in an Atypical Hemolytic Uremic Syndrome Patient." Frontiers in immunology vol. 12 (2021): 751093. doi: https://doi.org/10.3389/fimmu.2021.751093
López-Trascasa M, Alonso-Melgar Á, Melgosa-Hijosa M, Espinosa-Román L, Lledín-Barbancho MD, García-Fernández E, Rodríguez de Córdoba S, Sánchez-Corral P. Case Report: Combined Liver-Kidney Transplantation to Correct a Mutation in Complement Factor B in an Atypical Hemolytic Uremic Syndrome Patient. Front Immunol. 2021 Oct 14;12:751093. doi: 10.3389/fimmu.2021.751093. eCollection 2021. PMID: 34721423; PMCID: PMC8551365.
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Anti-factor H antibody affecting factor H cofactor activity in a patient with dense deposit disease.

Clinical kidney journal

Nozal P, Strobel S, Ibernon M, López D, Sánchez-Corral P, Rodríguez de Córdoba S, Józsi M, López-Trascasa M.
PMID: 29497514
Clin Kidney J. 2012 Apr;5(2):133-136. doi: 10.1093/ckj/sfs002. Epub 2012 Mar 15.

Complement alternative pathway dysregulation seems to be the pathophysiological basis of Dense Deposit Disease (DDD). Here, we describe a monoclonal anti-factor H (FH) autoantibody in a woman diagnosed with DDD with a monoclonal gammapathy. Enzyme-linked immunosorbent assays evidenced the...

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Nozal P, Strobel S, Ibernon M, et al. Anti-factor H antibody affecting factor H cofactor activity in a patient with dense deposit disease. Clin Kidney J. 2012;5(2):133-136doi: 10.1093/ckj/sfs002.
Nozal, P., Strobel, S., Ibernon, M., López, D., Sánchez-Corral, P., Rodríguez de Córdoba, S., Józsi, M., & López-Trascasa, M. (2012). Anti-factor H antibody affecting factor H cofactor activity in a patient with dense deposit disease. Clinical kidney journal, 5(2), 133-136. https://doi.org/10.1093/ckj/sfs002
Nozal, Pilar, et al. "Anti-factor H antibody affecting factor H cofactor activity in a patient with dense deposit disease." Clinical kidney journal vol. 5,2 (2012): 133-136. doi: https://doi.org/10.1093/ckj/sfs002
Nozal P, Strobel S, Ibernon M, López D, Sánchez-Corral P, Rodríguez de Córdoba S, Józsi M, López-Trascasa M. Anti-factor H antibody affecting factor H cofactor activity in a patient with dense deposit disease. Clin Kidney J. 2012 Apr;5(2):133-136. doi: 10.1093/ckj/sfs002. Epub 2012 Mar 15. PMID: 29497514; PMCID: PMC5783207.
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Self-Damage Caused by Dysregulation of the Complement Alternative Pathway: Relevance of the Factor H Protein Family.

Frontiers in immunology

Sánchez-Corral P, Pouw RB, López-Trascasa M, Józsi M.
PMID: 30050540
Front Immunol. 2018 Jul 12;9:1607. doi: 10.3389/fimmu.2018.01607. eCollection 2018.

The alternative pathway is a continuously active surveillance arm of the complement system, and it can also enhance complement activation initiated by the classical and the lectin pathways. Various membrane-bound and plasma regulatory proteins control the activation of the...

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Sánchez-Corral P, Pouw RB, López-Trascasa M, et al. Self-Damage Caused by Dysregulation of the Complement Alternative Pathway: Relevance of the Factor H Protein Family. Front Immunol. 2018;9:1607doi: 10.3389/fimmu.2018.01607.
Sánchez-Corral, P., Pouw, R. B., López-Trascasa, M., & Józsi, M. (2018). Self-Damage Caused by Dysregulation of the Complement Alternative Pathway: Relevance of the Factor H Protein Family. Frontiers in immunology, 91607. https://doi.org/10.3389/fimmu.2018.01607
Sánchez-Corral, Pilar, et al. "Self-Damage Caused by Dysregulation of the Complement Alternative Pathway: Relevance of the Factor H Protein Family." Frontiers in immunology vol. 9 (2018): 1607. doi: https://doi.org/10.3389/fimmu.2018.01607
Sánchez-Corral P, Pouw RB, López-Trascasa M, Józsi M. Self-Damage Caused by Dysregulation of the Complement Alternative Pathway: Relevance of the Factor H Protein Family. Front Immunol. 2018 Jul 12;9:1607. doi: 10.3389/fimmu.2018.01607. eCollection 2018. PMID: 30050540; PMCID: PMC6052053.
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Laboratory guidelines for the diagnosis and follow-up of patients with monoclonal gammopathies.

Revista clinica espanola

Bravo García-Morato M, Padilla-Merlano B, Nozal P, Espiño M, Juárez C, Villar LM, López-Trascasa M.
PMID: 26481802
Rev Clin Esp (Barc). 2016 Apr;216(3):128-34. doi: 10.1016/j.rce.2015.09.002. Epub 2015 Oct 17.

We present guidelines from the Immunochemistry group of the Spanish Society for Immunology that are designed to provide a practical tool for the diagnosis and follow-up of monoclonal gammopathies. We review the clinical and analytical features of various monoclonal...

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Bravo García-Morato M, Padilla-Merlano B, Nozal P, et al. Laboratory guidelines for the diagnosis and follow-up of patients with monoclonal gammopathies. Rev Clin Esp (Barc). 2015;216(3):128-34doi: 10.1016/j.rce.2015.09.002.
Bravo García-Morato, M., Padilla-Merlano, B., Nozal, P., Espiño, M., Juárez, C., Villar, L. M., López-Trascasa, M. (2016). Laboratory guidelines for the diagnosis and follow-up of patients with monoclonal gammopathies. Revista clinica espanola, 216(3), 128-34. https://doi.org/10.1016/j.rce.2015.09.002
Bravo García-Morato, M, et al. "Laboratory guidelines for the diagnosis and follow-up of patients with monoclonal gammopathies." Revista clinica espanola vol. 216,3 (2016): 128-34. doi: https://doi.org/10.1016/j.rce.2015.09.002
Bravo García-Morato M, Padilla-Merlano B, Nozal P, Espiño M, Juárez C, Villar LM, López-Trascasa M. Laboratory guidelines for the diagnosis and follow-up of patients with monoclonal gammopathies. Rev Clin Esp (Barc). 2016 Apr;216(3):128-34. doi: 10.1016/j.rce.2015.09.002. Epub 2015 Oct 17. Spanish. PMID: 26481802.
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The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant.

Frontiers in genetics

Corvillo F, de la Morena-Barrio ME, Marcos-Bravo C, López-Trascasa M, Vicente V, Emsley J, Caballero T, Corral J, López-Lera A.
PMID: 33133137
Front Genet. 2020 Sep 10;11:1033. doi: 10.3389/fgene.2020.01033. eCollection 2020.

BACKGROUND: Hereditary angioedema due to the Thr328Lys variant in the coagulation factor XII (HAE-FXII) affects mainly women in whom the symptomatology is dependent on high estrogen levels. Clinical variability and incomplete penetrance are challenging features that hinder the diagnosis...

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Corvillo F, de la Morena-Barrio ME, Marcos-Bravo C, et al. The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant. Front Genet. 2020;11:1033doi: 10.3389/fgene.2020.01033.
Corvillo, F., de la Morena-Barrio, M. E., Marcos-Bravo, C., López-Trascasa, M., Vicente, V., Emsley, J., Caballero, T., Corral, J., & López-Lera, A. (2020). The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant. Frontiers in genetics, 111033. https://doi.org/10.3389/fgene.2020.01033
Corvillo, Fernando, et al. "The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant." Frontiers in genetics vol. 11 (2020): 1033. doi: https://doi.org/10.3389/fgene.2020.01033
Corvillo F, de la Morena-Barrio ME, Marcos-Bravo C, López-Trascasa M, Vicente V, Emsley J, Caballero T, Corral J, López-Lera A. The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant. Front Genet. 2020 Sep 10;11:1033. doi: 10.3389/fgene.2020.01033. eCollection 2020. PMID: 33133137; PMCID: PMC7549737.
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Thrombin in the Activation of the Fluid Contact Phase in Patients with Hereditary Angioedema Carrying the F12 P.Thr309Lys Variant.

Clinical reviews in allergy & immunology

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.
PMID: 33725261
Clin Rev Allergy Immunol. 2021 Jun;60(3):357-368. doi: 10.1007/s12016-021-08840-x. Epub 2021 Mar 16.

Hereditary angioedema due to pathogenic FXII variants (HAE-FXII) is a rare dominant disease caused by increased activation of the plasma contact system. The most prevalent HAE-FXII variant, c.1032C > A p.Thr309Lys (FXII

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López-Gálvez R, de la Morena-Barrio ME, Miñano A, et al. Thrombin in the Activation of the Fluid Contact Phase in Patients with Hereditary Angioedema Carrying the F12 P.Thr309Lys Variant. Clin Rev Allergy Immunol. 2021;60(3):357-368doi: 10.1007/s12016-021-08840-x.
López-Gálvez, R., de la Morena-Barrio, M. E., Miñano, A., Pathak, M., Marcos, C., Emsley, J., Caballero, T., López-Trascasa, M., Vicente, V., Corral, J., & López-Lera, A. (2021). Thrombin in the Activation of the Fluid Contact Phase in Patients with Hereditary Angioedema Carrying the F12 P.Thr309Lys Variant. Clinical reviews in allergy & immunology, 60(3), 357-368. https://doi.org/10.1007/s12016-021-08840-x
López-Gálvez, R, et al. "Thrombin in the Activation of the Fluid Contact Phase in Patients with Hereditary Angioedema Carrying the F12 P.Thr309Lys Variant." Clinical reviews in allergy & immunology vol. 60,3 (2021): 357-368. doi: https://doi.org/10.1007/s12016-021-08840-x
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. Thrombin in the Activation of the Fluid Contact Phase in Patients with Hereditary Angioedema Carrying the F12 P.Thr309Lys Variant. Clin Rev Allergy Immunol. 2021 Jun;60(3):357-368. doi: 10.1007/s12016-021-08840-x. Epub 2021 Mar 16. PMID: 33725261.
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Laboratory guidelines for the diagnosis of patients with cryoglobulinaemic syndrome.

Revista clinica espanola

Mariscal-Rodríguez A, Villar Guimerans LM, López-Trascasa M, Hernández González M, Moga Naranjo E.
PMID: 30577994
Rev Clin Esp (Barc). 2019 Dec;219(9):505-513. doi: 10.1016/j.rce.2018.10.006. Epub 2018 Dec 19.

Cryoglobulinaemic syndromes include a collection of manifestations that are found in various diseases and that share a pathophysiological mechanism: cryoglobulin deposit in vascular beds. For these syndromes, the presence of cryoglobulins is a diagnostic criterion, and their correct detection...

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Mariscal-Rodríguez A, Villar Guimerans LM, López-Trascasa M, et al. Guía de laboratorio para el diagnóstico de pacientes con síndrome crioglobulinémico. Laboratory guidelines for the diagnosis of patients with cryoglobulinaemic syndrome. Rev Clin Esp (Barc). 2018;219(9):505-513doi: 10.1016/j.rce.2018.10.006.
Mariscal-Rodríguez, A., Villar Guimerans, L. M., López-Trascasa, M., Hernández González, M., Moga Naranjo, E. (2019). Guía de laboratorio para el diagnóstico de pacientes con síndrome crioglobulinémico. Laboratory guidelines for the diagnosis of patients with cryoglobulinaemic syndrome. Revista clinica espanola, 219(9), 505-513. https://doi.org/10.1016/j.rce.2018.10.006
Mariscal-Rodríguez, A, et al. "Guía de laboratorio para el diagnóstico de pacientes con síndrome crioglobulinémico." Laboratory guidelines for the diagnosis of patients with cryoglobulinaemic syndrome. Revista clinica espanola vol. 219,9 (2019): 505-513. doi: https://doi.org/10.1016/j.rce.2018.10.006
Mariscal-Rodríguez A, Villar Guimerans LM, López-Trascasa M, Hernández González M, Moga Naranjo E. Guía de laboratorio para el diagnóstico de pacientes con síndrome crioglobulinémico. Laboratory guidelines for the diagnosis of patients with cryoglobulinaemic syndrome. Rev Clin Esp (Barc). 2019 Dec;219(9):505-513. doi: 10.1016/j.rce.2018.10.006. Epub 2018 Dec 19. Spanish. PMID: 30577994.
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Correction to: Immunological features of patients affected by Barraquer-Simons syndrome.

Orphanet journal of rare diseases

Corvillo F, Ceccarini G, Nozal P, Magno S, Pelosini C, Garrido S, López-Lera A, Moraru M, Vilches C, Fornaciari S, Gabbriellini S, Santini F, Araújo-Vilar D, López-Trascasa M.
PMID: 32228621
Orphanet J Rare Dis. 2020 Mar 30;15(1):79. doi: 10.1186/s13023-020-1350-8.

Following the publication of the original article [1], the authors have requested to amend the Abstract and Discussion section as follows.

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Corvillo F, Ceccarini G, Nozal P, et al. Correction to: Immunological features of patients affected by Barraquer-Simons syndrome. Orphanet J Rare Dis. 2020;15(1):79doi: 10.1186/s13023-020-1350-8.
Corvillo, F., Ceccarini, G., Nozal, P., Magno, S., Pelosini, C., Garrido, S., López-Lera, A., Moraru, M., Vilches, C., Fornaciari, S., Gabbriellini, S., Santini, F., Araújo-Vilar, D., & López-Trascasa, M. (2020). Correction to: Immunological features of patients affected by Barraquer-Simons syndrome. Orphanet journal of rare diseases, 15(1), 79. https://doi.org/10.1186/s13023-020-1350-8
Corvillo, Fernando, et al. "Correction to: Immunological features of patients affected by Barraquer-Simons syndrome." Orphanet journal of rare diseases vol. 15,1 (2020): 79. doi: https://doi.org/10.1186/s13023-020-1350-8
Corvillo F, Ceccarini G, Nozal P, Magno S, Pelosini C, Garrido S, López-Lera A, Moraru M, Vilches C, Fornaciari S, Gabbriellini S, Santini F, Araújo-Vilar D, López-Trascasa M. Correction to: Immunological features of patients affected by Barraquer-Simons syndrome. Orphanet J Rare Dis. 2020 Mar 30;15(1):79. doi: 10.1186/s13023-020-1350-8. PMID: 32228621; PMCID: PMC7106744.
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Showing 1 to 8 of 8 entries