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Complement Component 8 Deficiency Type 1

Immunodeficiency due to a Late Component of Complement 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]
  • Data Presentation and Statistical Considerations. The design of the present study precluded traditional statistical handling of the material.[pnas.org]
  • Recurrent infections typically cause presentation. There is no known pathogenesis.[lecturio.com]
  • Patient presentation A four and a half year old boy presents with pyrexia, neck stiffness and a purpuric rash.[immunopaedia.org.za]
  • Bacterial meningitis is a rare presentation for acquired or congenital immunodeficiency; thus, most patients who present with bacterial meningitis do not have an identifiable deficiency of immune function.[academic.oup.com]
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]
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
Malnutrition
  • Malnutrition, particularly protein-calorie malnutrition, may be associated with IgA and other immunoglobulin deficiency.[clinicaladvisor.com]
  • Malnutrition.. .. .. Infection (congenital rubella, HIV infection, infectious mononucleosis and other such infections).. .. .. Protein-losing enteropathy.. .. .. Nephrosis.. .. .. Sickle cell disease.. .. ..[hawaii.edu]
  • Common features are: Diarrhea Dermatitis Failure to thrive due to repeated infections and malnutrition. Treatment is typically one of the following: Stem cell transplantation Gene therapy Enzyme replacement therapy.[lecturio.com]
  • Common causes include malnutrition, HIV/AIDS, malignancy, immune suppressive drugs, and toxin exposure. Malignancy can directly suppress B-cell function, as is seen in chronic lymphocytic leukemia and lymphomas.[worldallergy.org]
Dyspnea
  • […] fissures Short philtrum Frontal bossing Short nose Malar flattening Syndactyly Retrognathia Prominent forehead Abnormality of the genital system Proptosis Protruding ear Deep philtrum Radioulnar synostosis Abnormal soft palate morphology Polycystic ovaries Dyspnea[mendelian.co]
Meningism
  • Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984).[ncbi.nlm.nih.gov]
  • Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years ({8:Ross and Densen, 1984}).[diseaseinfosearch.org]
  • Thus, congenital deficiencies of immunoglobulin or complement production may present with bacterial meningitis due to any of the major meningeal pathogens.[academic.oup.com]
  • 1 Comparison of isolates of Neisseria gonorrhoeae causing meningitis and report of gonococcal meningitis in a patient with C8 deficiency. ( 2473091 ) 1989 2 Hereditary complement deficiency in survivors of meningococcal disease: high prevalence of C7[malacards.org]
Neck Stiffness
  • Patient presentation A four and a half year old boy presents with pyrexia, neck stiffness and a purpuric rash.[immunopaedia.org.za]

Workup

  • 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

  • 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]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

Prognosis

  • The prognosis of patients with LE and C2 deficiency, however, is no better than the prognosis of those with LE in general, with severe renal involvement occurring in 54% of cases.[jamanetwork.com]
  • 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]
  • Prognosis Prognosis was historically poor, but recently, patients have survived into adulthood. Complications Chronic lung disease and lymphomas are complications that can cause mortality.[lecturio.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]
  • The advent of eculizumab, an inhibitor of terminal complement C5, provides good quality of life (QOL) by preventing hemolysis and thrombosis, 1, 2 and may improve prognosis of PNH patients. 3 However, the safety of its long-term use for more than 10 years[bloodjournal.org]

Etiology

  • Discusses new studies examining potential etiologies for the increase in food allergy and examines potential immunotherapeutic strategies for treating food allergies.[books.google.com]
  • 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]
  • More than 60% of atypical idiopathic HUS has been found to be etiologically linked to mutations in six complement genes (Table II).[em-consulte.com]
  • Inherited deficiencies are uncommon, while acquired deficiencies, due to a variety of etiologies, are much more common.[arupconsult.com]

Epidemiology

  • Relevant External Links for C8A Genetic Association Database (GAD) C8A Human Genome Epidemiology (HuGE) Navigator C8A Atlas of Genetics and Cytogenetics in Oncology and Haematology: C8A No data available for Genatlas for C8A Gene Personalized smoking[genecards.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]
  • Epidemiology Complement deficiencies comprise 1-10% of the total immunodeficiencies.[lecturio.com]
  • […] lymphomas) Autoimmune disease Neoplasia Urticarial vasculitis associated with angioedema Idiopathic or cold-induced angioedema Cellulitis Parasitic infection (eg, Trichinella spp) Autoimmune conditions Laryngeal edema – peritonsillar abscess Background Epidemiology[arupconsult.com]
Sex distribution
Age distribution

Pathophysiology

  • Collectively, these findings show that Hnf1alpha governs broad, highly tissue-specific genetic programs in pancreatic islets and liver and reveal key consequences of Hnf1a deficiency relevant to the pathophysiology of monogenic diabetes.[software.broadinstitute.org]
  • Pathophysiology of typical hemolytic uremic syndrome Semin Thromb Hemost 2010 ; 36 (6) : 575-585 [cross-ref] [19] Orth D., Wurzner R.[em-consulte.com]
  • 1 – low complement 1 esterase inhibitor (C1-INH) level and low function (85%) If C1q is also low, suspect acquired angioedema Type 2 – normal C1-INH level but low function (15%) Type 3 (familial angioedema) – normal C1-INH and normal function (rare) Pathophysiology[arupconsult.com]
  • We do not yet fully understand how these genetic alterations contribute to the pathophysiology of nC1-INH-HAE.[rarediseasesjournal.com]
  • The findings in our exceptional PNH patient surely promote unveiling of complex pathophysiology and contribute to the establishment of a better terminal complement-targeted therapy in PNH.[bloodjournal.org]

Prevention

  • (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 45 60 Polymorphisms in innate immunity[genecards.org]
  • The advent of eculizumab, an inhibitor of terminal complement C5, provides good quality of life (QOL) by preventing hemolysis and thrombosis, 1, 2 and may improve prognosis of PNH patients. 3 However, the safety of its long-term use for more than 10 years[bloodjournal.org]
  • Control mechanisms to prevent unregulated activity (and tissue damage) are present in each pathway.[primaryimmune.org]

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