Orphanet Journal of Rare Diseases 2012-09-01

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

Mar__a Alba-Dom__nguez, Alberto L__pez-Lera, Sof__a Garrido, Pilar Nozal, Ignacio Gonz_lez-Granado, Josefa Melero, Pere Soler-Palac__n, Carmen C_mara, Margarita L__pez-Trascasa

Index: Orphanet J. Rare Dis. 7 , 42, (2012)

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Abstract

Complement Factor I (CFI) is a serine protease with an important role in complement alternative pathway regulation. Complete factor I deficiency is strongly associated with severe infections. Approximately 30 families with this deficiency have been described worldwide.