Primary Ficolin-3 deficiency--Is it associated with increased susceptibility to infections?

Mateusz Michalski1, Anna St Świerzko2, Izabela Pągowska-Klimek3

  • 1Laboratory 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.

Immunobiology
|February 10, 2015
PubMed

Insights

Ficolin-3 deficiency, a genetic condition, may not always increase infection risk as previously thought. Its clinical impact, especially in congenital cases, remains uncertain and requires further investigation.

Area of Science:

  • Immunology
  • Genetics

Background:

  • Ficolin-3 (H-ficolin) is a potent activator of the lectin pathway of complement.
  • Congenital Ficolin-3 deficiency in Caucasians is linked to the FCN3 gene mutation +1637delC (rs28357092).

Discussion:

  • Initial hypotheses suggested a strong link between Ficolin-3 deficiency and increased infection susceptibility.
  • New case reports and literature reviews indicate a more complex clinical picture.
  • Two new cases presented: a 50-year-old male with membranous nephropathy and an 11-month-old infant with congenital heart disease.

Key Insights:

  • The clinical consequences of congenital Ficolin-3 deficiency are not fully understood.
  • The role of Ficolin-3 deficiency as a life-threatening condition or disease modifier is still under investigation.

Outlook:

  • Further research is needed to elucidate the precise clinical implications of Ficolin-3 deficiency.
  • Understanding the full spectrum of Ficolin-3 deficiency is crucial for accurate diagnosis and management.

Related Concept Videos

Factors Affecting the Risk of Infection01:26

Factors Affecting the Risk of Infection

The hosts' susceptibility to infection depends on several factors. The integrity of the skin and mucous membranes helps protect the body against microbial attacks. When the skin is altered, the chance of infection, limb loss, and even death increases.
The integrity and count of the white blood cells help the body resist pathogens and fight infection. When impaired, it reduces the body's resistance to pathogens. The acidic pH levels of the gastrointestinal, genitourinary tracts, and skin...
14.7K
Types of Intermediate Filaments01:31

Types of Intermediate Filaments

The intermediate filaments are an essential component of the cytoskeleton. Presently six types of intermediate filament have been identified. Type I and II are acidic and basic keratin proteins. Type III is of mesodermal origin and comprises four proteins: vimentin, desmin, glial fibrillary acidic protein (GFAP), and peripherin. Vimentin is commonly found in mesenchymal cells, desmin in muscle cells, GFAP in astrocytes, while peripherin is found in peripheral nervous system neurons (PNS). Type...
5.3K
Inflammatory Bowel Disease III: Crohn's Disease01:25

Inflammatory Bowel Disease III: Crohn's Disease

Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
2
Fungal Phylum Microsporidia01:28

Fungal Phylum Microsporidia

Microsporidia are a group of obligate intracellular fungi that were initially classified as protists but were later reclassified based on phylogenetic, molecular, and structural evidence linking them to the Chytridiomycota. These unicellular, non-motile organisms are highly specialized parasites that infect a wide range of animal hosts, including humans. They have evolved extensive genomic and metabolic reductions, making them highly dependent on their hosts for survival.Morphology and Genomic...
767
Fibril-associated Collagen01:11

Fibril-associated Collagen

Fibril-associated collagens are a type of collagens present in the extracellular matrix with interrupted triple helices or FACIT (Fibril-associated collagens interrupted triple-helices). FACIT help connect and attach the collagen fibrils with each other as well as with other proteins of the extracellular matrix.
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...
3.8K
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
1.1K