Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency. Export

@article{citeulike:4911877, abstract = {Ficolin-3, encoded by the FCN3 gene and expressed in the lung and liver, is a recognition molecule in the lectin pathway of the complement system. Heterozygosity for an FCN3 frameshift mutation (rs28357092), leading to a distortion of the C-terminal end of the molecule, occurs in people without disease (allele frequency among whites, 0.01). We describe a patient with recurrent infections who was homozygous for this mutation, who had undetectable serum levels of ficolin-3, and who had a deficiency in ficolin-3-dependent complement activation.}, author = {Munthe-Fog, L. and Hummelsh{\o}j, T. and Honor\'{e}, C. and Madsen, H. O. and Permin, H. and Garred, P.}, citeulike-article-id = {4911877}, citeulike-linkout-0 = {http://dx.doi.org/10.1056/NEJMoa0900381}, citeulike-linkout-1 = {http://view.ncbi.nlm.nih.gov/pubmed/19535802}, citeulike-linkout-2 = {http://www.hubmed.org/display.cgi?uids=19535802}, day = {18}, doi = {10.1056/NEJMoa0900381}, issn = {1533-4406}, journal = {The New England journal of medicine}, keywords = {immunodeficiency}, month = {June}, number = {25}, pages = {2637--2644}, posted-at = {2009-06-19 22:16:40}, priority = {2}, title = {Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency.}, url = {http://dx.doi.org/10.1056/NEJMoa0900381}, volume = {360}, year = {2009} }

TY - JOUR ID - citeulike:4911877 L3 - citeulike-article-id:4911877 N2 - Ficolin-3, encoded by the FCN3 gene and expressed in the lung and liver, is a recognition molecule in the lectin pathway of the complement system. Heterozygosity for an FCN3 frameshift mutation (rs28357092), leading to a distortion of the C-terminal end of the molecule, occurs in people without disease (allele frequency among whites, 0.01). We describe a patient with recurrent infections who was homozygous for this mutation, who had undetectable serum levels of ficolin-3, and who had a deficiency in ficolin-3-dependent complement activation. IS - 25 JF - The New England journal of medicine SN - 1533-4406 EP - 2644 TI - Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency. VL - 360 SP - 2637 KW - immunodeficiency AU - Munthe-Fog, L AU - Hummelshøj, T AU - Honoré, C AU - Madsen, HO AU - Permin, H AU - Garred, P PY - 2009/06/18/ UR - http://dx.doi.org/10.1056/NEJMoa0900381 ER -