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Recurrent Neisseria Infections due to Factor D Deficiency

Complement Factor D Deficiency


Presentation

  • Associated with frequent, recurrent disseminated infections Streptococcus pneumoniae Neisseria meningitidis Neisseria gonorrhea May present as autoimmune disease (eg, systemic lupus erythematosus [SLE] , nephritis) Presentation is similar among various[arupconsult.com]
  • Pneumocystis jiroveci pneumonia is possible as initial presentation.[unboundmedicine.com]
  • Control mechanisms to prevent unregulated activity (and tissue damage) are present in each pathway.[primaryimmune.org]
  • Presentation in early infancy.. .. .. Poor growth or failure to thrive.. .. .. Persistent oral thrush.. .. .. Opportunistic infection. Phagocytic Defects:. .. .. Presentation in infancy or childhood.. .. ..[hawaii.edu]
  • […] of patients with suspected primary immunodeficiency is presented in Figure 1.[aafp.org]
Inflammation
  • Apply the latest scientific knowledge and clinical applications with new chapters on Innate and Adaptive Immunity, Immune Tolerance, Immunobiology of IgE and Its Receptors, Resolution of Allergic Inflammation, and Particulate and Allergen Interactions[books.google.de]
  • The complement system is a complex system of proteins that play a role in host defense and inflammation response by acting as a cascade involving three pathways – classical (CP), alternative (AP), and lectin (LP).[arupconsult.com]
  • When you have recurrent microbial (usually bacterial ) infections, unexplained inflammation or edema, or symptoms related to an autoimmune disorder; periodically to help monitor a known acute or chronic condition that affects the complement system A blood[labtestsonline.org]
  • […] of the uterus (2) Salpingitis – inflammation of the fallopian tubes b.[web.biosci.utexas.edu]
  • Infection by this bacterium causes inflammation of the membranes surrounding the brain and spinal cord (meningitis).[icdlist.com]
Recurrent Infection
  • Recurrent infections of unusual severity or anatomic location merit further evaluation.[antimicrobe.org]
  • IVIG therapy may be beneficial for a selective antibody deficiency with IgG1 or IgG2 deficiency and significant recurrent infections.[hawaii.edu]
  • Screening should be considered in someone with recurrent infection.[patient.info]
  • MBL deficiency is associated with recurrent infections, including upper respiratory tract infections, abscesses, and sepsis. Low levels may also be associated with more severe lung disease in cystic fibrosis.[clinicaladvisor.com]
Increased Susceptibility to Infections
  • C5, C6, C7, C8, and C9 deficiencies are associated with increased susceptibility to infection with Neisseria organisms. Properdin deficiency is also associated with increased susceptibility to infection with Neisseria organisms.[clinicaladvisor.com]
  • Primary complement deficiencies are closely associated with increased susceptibility to infection, rheumatic/autoimmune diseases, or angioedema. Properdin deficiency is X linked.[adc.bmj.com]
  • Autoimmune disease can increase susceptibility to infections, especially in systemic lupus erythematosus ( 40, 24 ).[antimicrobe.org]
  • This may lead to an increased susceptibility to infection and a balance must often be struck between controlling immune complex disease and increasing propensity to infection.[patient.info]
Recurrent Bacterial Infection
  • Related phenotypes are recurrent bacterial infections and complement deficiency UniProtKB/Swiss-Prot : 75 Complement factor D deficiency: An immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria[malacards.org]
  • People with complement component 8 deficiency have a significantly increased risk of recurrent bacterial infections, particularly by a bacterium called Neisseria meningitidis.[icdlist.com]
  • C2 deficiency is also associated with recurrent bacterial infection and an increased risk of cardiovascular disease.[patient.info]
  • bacterial infections) Retained primary T eeth Hyper- IgE ( E osinophilia) D ermatologic (severe eczema ) Diagnosis IgE Variable eosinophilia Treatment IL-12 receptor deficiency Definition : impaired Th response due to IL-12 receptors Etiology : autosomal[amboss.com]
  • Histories of delayed separation of the umbilical cord, recurrent bacterial infections, necrotic skin lesions, severe gingivitis, periodontitis, and alveolar bone loss leading to early loss of deciduous and permanent teeth suggest the diagnosis.[hawaii.edu]
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]
  • Levels that fall more than 2 standard deviations outside the mean are reported as abnormal.[antimicrobe.org]
  • 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]
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]
  • Additionally, clinical findings such as leucocytoclastic vasculitis, severe angioedema, pulmonary involvement, arthritis, glomerulonephritis, and recurrent abdominal pain are possible.[frontiersin.org]
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.de]

Workup

  • […] 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]
  • The immunologic workup of the child suspected of immunodeficiency. Ann Allergy Asthma Immunol 2001;87(5):362-370. 4. Paul ME, Shearer WT. Chapter 33- Approach to the Evaluation of the Immunodeficient Patient. In: Rich RR, Fleisher TA (eds).[hawaii.edu]

Treatment

  • Take full advantage of the major advances in asthma pathogenesis and management with significant updates on diagnosis, treatment, and special aspects of asthma.[books.google.de]
  • : no specific treatment or prophylaxis is indicated.[amboss.com]
  • Prophylactic treatments include attenuated androgens and C1 inhibitor.[primaryimmune.org]
  • Abdel-Magid AF. (2012) Factor D Inhibitors for the Treatment of AMD: Patent Highlight. ACS Med Chem Lett, 3 (10): 781-2. [PMID:24900375] 2.[guidetopharmacology.org]

Prognosis

  • The prognosis in primary immunodeficiency disorders is variable and depends on the specific disorder. Congenital B-cell immunodeficiencies B-cell defects ( humoral immunity deficiencies ) account for 50–60% of all primary immunodeficiencies.[amboss.com]
  • Deficiencies of the components of the MAC (C5-C9) tend to lead to less severe infections and have a better prognosis with careful management.[patient.info]
  • A rapid response and antibiotic therapy may help improve the prognosis ( PubMed ) ."[pusware.com]
  • […] genetic cause cannot be identified in the majority of patients with clinical features of CVID, there are an increasing number of identificable conditions that can be linked to newly identified genetic disorders that have implications for the long term prognosis[worldallergy.org]
  • In addition, treatment before the age of 3 months is also associated with better prognosis.[antimicrobe.org]

Etiology

  • Selective IgA deficiency ( SIgAD ) Definition : the most common primary immunodeficiency with near or total absence of serum and secretory IgA Epidemiology : approx. 1/220 to 1/1000 Etiology : unknown Clinical features Often asymptomatic May manifest[amboss.com]
  • Inherited deficiencies are uncommon, while acquired deficiencies, due to a variety of etiologies, are much more common.[arupconsult.com]
  • The diagnosis should be directed toward primary and secondary etiologies that are consistent with the clinical presentation and pattern of infections.[worldallergy.org]
  • The organism was grown in pure culture in 1885, and its etiological relationship to human disease was later established using human volunteers in order to fulfill the experimental requirements of Koch's postulates.[textbookofbacteriology.net]
  • Not infrequently the clinician may find it difficult to distinguish patients with an intact immune response and normal pattern of infections (or non-infectious etiologies) from those with a presentation reflecting primary or secondary immunodeficiency[antimicrobe.org]

Epidemiology

  • Objectives After completing this article, readers should be able to: Understand the epidemiology of Neisseria meningitidis infections. Understand which patients are at increased risk of invasive and recurrent meningococcal disease.[pedsinreview.aappublications.org]
  • Selective IgA deficiency ( SIgAD ) Definition : the most common primary immunodeficiency with near or total absence of serum and secretory IgA Epidemiology : approx. 1/220 to 1/1000 Etiology : unknown Clinical features Often asymptomatic May manifest[amboss.com]
  • Relevant External Links for CFD Genetic Association Database (GAD) CFD Human Genome Epidemiology (HuGE) Navigator CFD Atlas of Genetics and Cytogenetics in Oncology and Haematology: CFD No data available for Genatlas for CFD Gene Human adipsin is identical[genecards.org]
  • Epidemiology and pathogenesis of Neisseria meningitidis. Microbes Infect 2, 687 –700. [CrossRef] [Google Scholar] 122. Urwin, R., Holmes, E. C., Fox, A. J., Derrick, J. P. & Maiden, M. C. ( 2002 ;).[jmm.microbiologyresearch.org]
  • […] also include MBL testing, depending on clinical presentation Further testing based on disease presentation and initial testing – refer to Key Points and algorithm Monitoring Circulating immune complexes – may be useful for disease monitoring Background Epidemiology[arupconsult.com]
Sex distribution
Age distribution

Pathophysiology

  • […] clinical disorders or settings where the test may be helpful Investigation of suspected alternative pathway complement deficiency, atypical hemolytic uremic syndrome, C3 glomerulonephritis, dense-deposit disease Clinical Information Discusses physiology, pathophysiology[mayomedicallaboratories.com]
  • Meningococcal vaccine Prophylactic antibiotics C3 deficiency Definition : deficiency of the complement factor C3 and its cleaved fragments (e.g., C3b) Etiology : primary or secondary due to impairment in the regulatory proteins factor I or factor H Pathophysiology[amboss.com]
  • Caccia S, Suffritti C and Cicardi M (2014) Pathophysiology of hereditary angioedema. Pediatric Allergy, Immunology, and Pulmonology 27: 159–163. Carroll MC (2004) The complement system in regulation of adaptive immunity.[els.net]
  • 100 Factor H 100 FHR1 (FHR3) 100 (5% Caucasians) Factor 1 50 Thrombomodulin (CD141) 10 CD46/MCP 50 CD55/DAF CR2 (CD21) Rare CR3 (CD18/CD11b) 1/million Genetics Autosomal recessive – most complement deficiency disorders X-linked – properdin deficiency Pathophysiology[arupconsult.com]
  • […] change of cytosine to thymine at position 55 (55C T) leading to change of the glutamine amino acid at position 19 to a stop codon (Q19X), and serologically absence of C5 in the serum. [11] The 3 major sequelae of complement deficiencies, based on the pathophysiology[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.de]
  • In this article, we review the basic microbiology, epidemiology, clinical presentation, treatment, and prevention of meningococcal disease. Microbiology N meningitidis is an aerobic, nonmotile Gram-negative diplococcus bacterium.[pedsinreview.aappublications.org]
  • May be transient (newborn) or permanent (HIV); more common than PID and tends to occur later in life General Prevention Early identification is key to prevent infection and possible comorbidity.[unboundmedicine.com]
  • CD59 on hematologic cells is required to prevent unregulated complement lysis. This protein is bound to cells by a phosphoinositol linkage and this linkage is defective in individuals with paroxysmal nocturnal hemoglobinuria.[clinicaladvisor.com]
  • Control mechanisms to prevent unregulated activity (and tissue damage) are present in each pathway.[primaryimmune.org]

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