Immunodeficiency Associated with FCN3 Mutation and Ficolin-3 Deficiency  

Oleh:

Munthe-Fog, Lea ; Hummelshoj, Tina ; Honore, Christian ; Madsen, Hans O. ; Permin, Henrik ; Garred, Peter

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 360 no. 25 (Jun. 2009), page 2637-2644 .
Topik: Ficolin-3; FCN3 gene

Ketersediaan

Perpustakaan FK Nomor Panggil: N08.K.2009.03 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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.

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