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• Hereditary angioedema caused by the p.Thr309Lys mutation in the F12 gene: a multi-
Most relevant
factorial disease. GóMez-traseira c, lóPez-lera a, drouet c, lóPez-trascasa M, Pérez-Fer-
scientific e, F b, P n, c t. J Allergy Clin Immunol. 2013 Oct;132(4):986-9.
nández aVierrioraballero
articles
e1-5. doi: 10.1016/j.jaci.2013.04.032. Epub 2013 Jul 10. No abstract available.

• C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and com-

plement regulation. tortaJada a, yébenes h, abarrateGui-Garrido c, anter J, García-Fer-
nández JM, Martínez-barricarte r, alba-doMínGuez M, Malik th, bedoya r, cabrera Pérez

r, lóPez trascasa M, PickerinG Mc, harris cl, sánchez-corral P, llorca o, rodríGuez de
c s. J Clin Invest. 2013 Jun 3;123(6):2434-46.
órdoba
• Disease-modifying factors in hereditary angioedema: an RNA expression-based scree-

ning. lóPez-lera a, cabo Fs, Garrido s, doPazo a, lóPez-trascasa M. Orphanet J Rare Dis.
2013 May 20;8:77. doi: 10.1186/1750-1172-8-77.

• An engineered construct combining complement regulatory and surface-recognition
ó
domains represents a minimal-size functional factor H. hebecker M, alba-doMínGuez M,
r lt, r s, h s, d-d Ma, J ts, s-c P,
ouMeninaeuteryVärinenraGonureyokirantaánchezorralí
Jzsi M. J Immunol. 2013 Jul 15;191(2):912-21. doi: 10.4049/jimmunol.1300269.
Epub 2013 Jun 14.

• Combined complement gene mutations in atypical hemolytic uremic syndrome influen-

ce clinical phenotype. bresin e, rurali e, caPrioli J, sanchez-corral P, FreMeauX-bacchi V,
r c s, P s, G th, a M, r d, V e, r G, n-
odrGuezde ordobaintooodshiPlbertiibesalotieMuzzio
ris M; European Working Party on Complement Genetics in Renal Diseases. J Am Soc

Nephrol. 2013 Feb;24(3):475-86. doi: 10.1681/ASN.2012090884. Epub 2013 Feb 21.

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Highlights
In 2013 our group initiated new public (Ministerio de Economía y Competitivi-
dad) and private (Fundacin SENEFRO) research projects. We also received funding

from the Centre for Biomedical Network Research on Rare Diseases (CIBERER) in

the form of a grant for young researchers (Shuttle grant) for Fernando Corvillo,
who obtained his Master degree in Immunology Research on September 2013.

The group started its participation in a paediatric clinical trial on Hereditary An-

gioedema (HAE) (FIR-086-HGT), and in the post-commercialization registry of Cin-
ryze®, a new drug for HAE. Our participation in the post-commercialization registry

of Firazyr (Firazyr-IOS) in the HAE field is ongoing. On the other hand, the group

is also contributing to the Collaborative Project “Spanish Rare Disease Registries
Research Network (SPAIN-RDR)” within the INTERNATIONAL RARE DISEASE RE-

SEARCH CONSORTIUM (IRDiRC), in order to establish a National Registry for Here-

ditary Angioedema. The development and validation of a specific HRQoL instrument
for HAE (HAE-QoL) has been finished.
í

During 2013, we set up or optimized several protocols that are important for the

detection and characterization of clinically-significant autoantibodies directed
against proteins of the complement system (anti-C3, anti-Properdin, anti-Factor B 13
20
and nephritic factor (C3NEF)). This novel methodology is focused on a translatio- T
óOR
nal approach for the study, characterization and diagnosis of complement-related P
pathologies, as is the case of C3 nephropathies and atypical Haemolytic Uremic RE
L
Syndrome (aHUS). In this context, we have also started the study of the factor H/ A
NU
FHR protein family in patients of renal pathologies with higher incidence, such as N
IgA nephropathy.
A
R /
In 2013 the group’s research lines yielded a significant number of peer-reviewed, E
ER
first-quartile scientific publications, including the five selected in the previous sec- B
tion. We also took part in a workshop hosted by Dr. Rodrguez de Crdoba (U738), CI

with several National and International research groups involved in the study of
173
complement in renal pathologies.