title: Primary Ficolin-3 deficiency--Is it associated with increased susceptibility to infections?
abstract: Ficolin-3 (also called H-ficolin or Hakata antigen) is the most potent activator of the lectin pathway of complement in vitro. Its genetically determined deficiency in Caucasians is associated with a frame-shift mutation +1637delC (rs28357092) of the FCN3 gene. When it was described for the first time, it was postulated to be strictly associated with enhanced susceptibility to infections. At present, with our knowledge extended by several other patients that issue seems to be more complicated and less clear-cut. Two new cases of primary Ficolin-3 deficiency are reported here: a 50-year old male, suffering from membranous nephropathy and an 11-month old male infant who was operated on to repair congenital heart disease. Based on those cases and a literature review, we conclude that the clinical consequences of congenital Ficolin-3 deficiency are still unclear and such questions as whether it may be life-threatening or acts as a disease modifier remain to be elucidated.
authors: Laboratory of Immunobiology of Infections, Institute of Medical Biology, Polish Academy of Sciences, Lodz, Poland; Institute of Microbiology, Biotechnology and Immunology, University of Lodz, Lodz, Poland.
authors: Mateusz
authors: M
authors: Michalski
authors: Laboratory of Immunobiology of Infections, Institute of Medical Biology, Polish Academy of Sciences, Lodz, Poland. Electronic address: aswierzko@cbm.pan.pl.
authors: Anna St
authors: AS
authors: Świerzko
authors: Department of Anesthesiology and Intensive Care, Polish Mother's Memorial Hospital Institute, Lodz, Poland.
authors: Izabela
authors: I
authors: Pągowska-Klimek
authors: Laboratory of Molecular Nephrology, Department of Nephrology, Transplantology and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland.
authors: Zofia I
authors: ZI
authors: Niemir
authors: Laboratory of Immunobiology of Infections, Institute of Medical Biology, Polish Academy of Sciences, Lodz, Poland.
authors: Karolina
authors: K
authors: Mazerant
authors: Department of Neonatology, Medical University of Gdansk, Gdansk, Poland.
authors: Iwona
authors: I
authors: Domżalska-Popadiuk
authors: Department of Cardiac Surgery, Polish Mother's Memorial Hospital Institute, Lodz, Poland.
authors: Maciej
authors: M
authors: Moll
authors: Laboratory of Immunobiology of Infections, Institute of Medical Biology, Polish Academy of Sciences, Lodz, Poland.
authors: Maciej
authors: M
authors: Cedzyński
mesh_terms: D020022:Genetic Predisposition to Disease; D006023:Glycoproteins / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics; D007239:Infections / Q000209:etiology*; D037102:Lectins / Q000172:deficiency* / Q000235:genetics
chemical_list: C109662:FCN3 protein, human; D006023:Glycoproteins; D037102:Lectins
keywords: Complement; FCN3; Ficolin-3; Immunodeficiency; Infection