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Items: 5

1.

Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency.

Bay JT, Katzenstein TL, Kofoed K, Patel D, Skjoedt MO, Garred P, Schejbel L.

Clin Immunol. 2015 Oct;160(2):315-8. doi: 10.1016/j.clim.2015.05.004. Epub 2015 May 16.

PMID:
25988862
2.

An ELISA assay with two monoclonal antibodies allows the estimation of free factor H and identifies patients with acquired deficiency of this complement regulator.

Nozal P, Garrido S, Alba-Domínguez M, Espinosa L, Peña A, Córdoba SR, Sánchez-Corral P, López-Trascasa M.

Mol Immunol. 2014 Apr;58(2):194-200. doi: 10.1016/j.molimm.2013.11.021. Epub 2013 Dec 28.

PMID:
24378252
3.

Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion.

Alba-Domínguez M, López-Lera A, Garrido S, Nozal P, González-Granado I, Melero J, Soler-Palacín P, Cámara C, López-Trascasa M.

Orphanet J Rare Dis. 2012 Jun 18;7:42. doi: 10.1186/1750-1172-7-42.

4.

Genetic, molecular and functional analyses of complement factor I deficiency.

Nilsson SC, Trouw LA, Renault N, Miteva MA, Genel F, Zelazko M, Marquart H, Muller K, Sjöholm AG, Truedsson L, Villoutreix BO, Blom AM.

Eur J Immunol. 2009 Jan;39(1):310-23. doi: 10.1002/eji.200838702.

5.

Molecular characterization of Complement Factor I deficiency in two Spanish families.

Ponce-Castro IM, González-Rubio C, Delgado-Cerviño EM, Abarrategui-Garrido C, Fontán G, Sánchez-Corral P, López-Trascasa M.

Mol Immunol. 2008 May;45(10):2764-71. doi: 10.1016/j.molimm.2008.02.008. Epub 2008 Mar 28.

PMID:
18374984

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