Edit concept Question Editor Create issue ticket

Immunodeficiency due to Ficolin 3 Deficiency


Presentation

  • He has edited more than 10 books, has presented more than 350 lectures/posters in congresses/meetings, and has published more than 500 articles in the international scientific journals during last decade.[books.google.com]
  • The optimum approach is to ensure that no other treatable immunodeficiency is present and to optimise vaccine coverage.[aaaai.org]
  • C1q Autoantibodies and SLE C1q autoantibodies are present in 2–8% of the healthy population, but in SLE, they are present in 30–48% of patients ( 84 ).[frontiersin.org]
  • Control mechanisms to prevent unregulated activity (and tissue damage) are present in each pathway.[primaryimmune.org]
  • Acronym FCN3D Synonyms Defect in lectin complement activation pathway, 3 FCN3 deficiency Immunodeficiency due to ficolin 3 deficiency LCAPD3 Any medical or genetic information present in this entry is provided for research, educational and informational[uniprot.org]
Recurrent Infection
  • 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.[research.ku.dk]
  • infections, associated with diarrhea and failure to thrive.[mendelian.co]
  • Definition A disorder characterized by immunodeficiency, recurrent infections, brain abscesses and recurrent warts on the fingers.[uniprot.org]
  • […] syndrome STK4 T-cell immunodeficiency syndrome, recurrent infections, autoimmunity, TAP1 Bare lymphocyte syndrome TAP2 Bare lymphocyte syndrome TAPBP Bare lymphocyte syndrome TBX1 Conotruncal anomaly face syndrome TNFRSF4 Immunodeficiency TRAC T-cell[genda.com.ar]
Increased Susceptibility to Infections
  • Some patients may show increased susceptibility to infection in the perinatal or neonatal period, whereas others may show autoimmune features as adults.[diseaseinfosearch.org]
  • Decreased MBL levels may be associated with increased susceptibility to infections when the adaptive immune system is immature (in early childhood) 12 or has been suppressed after organ transplantation 13-15 or during cancer chemotherapy. 16,17 In adults[labcorp.com]
  • Such deficiency is associated with increased susceptibility to infections and greater disease severity and in aggressive antibiotic treatment can be required in high risk patients such as those on chemotherapy or immunosuppressants.[alphalabs.co.uk]
Physician
  • This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.[diseaseinfosearch.org]
  • Because few children have a demonstrable PID, it can be challenging for the investigating physician to identify in this group the relatively rare child with an immunodeficiency.[bmcimmunol.biomedcentral.com]
  • It is unique, in there are two paths a physician can take to obtain the specialization. The completion of this allows one to take a subspecialty board examination.[wikivisually.com]
  • Author Rebecca Schreier, DO Resident Physician, Department of Pediatrics, Sanford Children’s Hospital Disclosure: Nothing to disclose.[emedicine.medscape.com]
Pathologist
  • Confidently prepare for the upcoming recertification exams for clinical pathologists set to begin in 2016.[books.google.com]
  • Sometimes, pathologists practice both anatomical and clinical pathology, a known as general pathology.[wikivisually.com]
Falling
  • MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.[mybiosource.com]
  • Complement activation is a cascading event like the falling of a row of dominoes. It must follow a specific order if the end result is to be achieved.[primaryimmune.org]
Sputum
  • Hypoalbuminemia Sputum smear: Neutrophils, mixed bacteria Sputum culture: Often grows normal respiratory flora; may help in atypical presentations Blood culture: Often negative in anaerobic abscess Drugs that may alter lab results: Prior antibiotics Imaging[tipsdiscover.com]
  • During the past 8 years, he has had several episodes of bacterial pneumonia requiring hospital admission, with positive cultures of bronchial sputum for Haemophilus influenzae and Pseudomonas aeruginosa .[nejm.org]
Recurrent Abdominal Pain
  • HAE : diagnosis should be suspected : • history of recurrent angioedema, esp. if hives are absent • with (1) positive family history (2) onset of symptoms in childhood/adolescence (3) recurrent abdominal pain attacks (4) occurrence of upper airway edema[slideshare.net]
Stroke
  • […] all the latest approaches in clinical laboratory medicine with new and updated coverage of: the chemical basis for analyte assays and common interferences; lipids and dyslipoproteinemia; markers in the blood for cardiac injury evaluation and related stroke[books.google.com]
  • Wkly. 141, w13191 (2011), Abstract ; Mannose-binding lectin deficiency is associated with smaller infarction size and favorable outcome in ischemic stroke patients : M.[enzolifesciences.com]

Workup

  • I agree with Dr Lieberman that a workup for other causes of recurrent infection is required. Vaccination as you plan is appropriate.[aaaai.org]
  • […] recurrent abdominal pain attacks (4) occurrence of upper airway edema (5) failure to respond to antihistamines, glucocorticoid, or epinephrine; and (6) presence of prodromal signs or symptoms before swellings • Suspicion of HAE-1/2 should prompt laboratory workup[slideshare.net]

Treatment

  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Effectively monitor the pace of drug clearing in patients undergoing pharmacogenomic treatments with a new chapter on this groundbreaking new area.[books.google.com]
  • General Prevention Treatment of predisposing diseases Aspiration precautions Treatment of periodontal diseases Etiology May be due to aspiration of anaerobic oral flora (most common); 24–48 h after aspiration, lung abscess forms (1).[tipsdiscover.com]
  • Prophylactic treatments include attenuated androgens and C1 inhibitor.[primaryimmune.org]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]

Prognosis

  • Clinical improvement with decrease in fever expected 3–4 days after starting antibiotics Defervescence expected in 7–10 days Prognosis depends on the underlying disease or immunosuppression (22).[tipsdiscover.com]
  • Saevarsdottir S, Vikingsdottir T, Vikingsson A, Manfredsdottir V, Geirsson AJ, et al. (2001) Low mannose binding lectin predicts poor prognosis in patients with early rheumatoid arthritis. A prospective study. J Rheumatol 28: 728-734.[omicsonline.org]
  • SLE, Classical Complement Component Deficiencies, and Mortality Systemic lupus erythematous patients with deficiencies in classical complement components present disease at an early age, with more aggressive symptoms and worse prognosis.[frontiersin.org]

Etiology

  • General Prevention Treatment of predisposing diseases Aspiration precautions Treatment of periodontal diseases Etiology May be due to aspiration of anaerobic oral flora (most common); 24–48 h after aspiration, lung abscess forms (1).[tipsdiscover.com]
  • Epidemiology, etiology, pathogenesis, and diagnosis of recurrent bacterial meningitis. Clin Microbiol Rev. 2008 Jul. 21(3):519-37. [Medline]. The immunocompromised traveller. An Advisory Committee Statement (ACS).[emedicine.medscape.com]

Epidemiology

  • Relevant External Links for FCN3 Genetic Association Database (GAD) FCN3 Human Genome Epidemiology (HuGE) Navigator FCN3 Atlas of Genetics and Cytogenetics in Oncology and Haematology: FCN3 No data available for Genatlas for FCN3 Gene Exploring the role[genecards.org]
  • Invasive aspergillosis: epidemiology, diagnosis and management in immunocompromised patients. Drugs. 2007. 67(11):1567-601. [Medline]. Moens L, Van Hoeyveld E, Peetermans WE, et al.[emedicine.medscape.com]
  • Synonym(s): Pulmonary abscess Epidemiology Incidence Predominant age: Mainly 4th–6th decades Predominant sex: Male Female (4:1) Prevalence Unknown; relatively rare since advent of antibiotics (2) Pediatric Considerations Staphylococcus most common organism[tipsdiscover.com]
  • Hepatitis B virus epidemiology, disease burden, treatment, and current and emerging prevention and control measures. J Viral Hepat 2004 ; 11 : 97-107. 75. Yuen MF, Lau CS, Lau YL, Wong WM, Cheng CC, Lai CL.[redorbit.com]
  • PubMed View Article Google Scholar Teele DW, Klein JO, Rosner B: Epidemiology of otitis media during the first seven years of life in children in greater Boston: a prospective, cohort study.[bmcimmunol.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • Dysfunction in this mechanism is regarded as an important contributor to the pathophysiology of SLE. Thus, we sought to determine whether ficolin 3 participates in the clearance of apoptotic cells.[ncbi.nlm.nih.gov]
  • The pathophysiologic role of monocytes and macrophages in systemic lupus erythematosus: a reappraisal. Semin Arthritis Rheum (2010) 39 :491–503. doi:10.1016/j.semarthrit.2008.11.002 PubMed Abstract CrossRef Full Text Google Scholar 64.[frontiersin.org]
  • Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome. Blood. 2009 Jun 18. 113(25):6288-95. [Medline]. Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A.[emedicine.medscape.com]

Prevention

  • Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection.[books.google.com]
  • Formation of C3-Convertase can be prevented by the action of Factor I, a protease that inhibits free C3b by cleaving the protein to give the inactive iC3b.[alphalabs.co.uk]
  • Infection has been prevented for one year after beginning IVIG replacement therapy.[aaaai.org]
  • Control mechanisms to prevent unregulated activity (and tissue damage) are present in each pathway.[primaryimmune.org]
  • Management • Prevention – Replacement of the missing component • C1-INH concentrate is the only product that is licensed and is used in a regularly fashion • FFP – Antibiotic prophylaxis – Vaccination • Encapsulated bacteria : S. pneumoniae and H. influenzae[slideshare.net]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!