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]

Late component defects (C5-9) may present with meningitis, whereas early component defects (C1q, r, s, C4, C2) may present with a lupus-like illness. [nationaljewish.org]

Slide 1 Everything You Need To Know About Content Marketing Hana Abaza, Director of Marketing at Uberflip @hanaabaza 1 WHY IT’S HOT Authoring – Create your content.… All About Beer PowerPoint Presentation Text Me: Do's & Don'ts of Presentation Design [docslide.net]

Patients of CVID usually present later in life that is after 5 years though some may present as early as 2 years of age. [indianpediatrics.net]

Control mechanisms to prevent unregulated activity (and tissue damage) are present in each pathway. [primaryimmune.org]

• Virilization

  Prophylactic treatment with danazol, an androgen, has been shown to stimulate the synthesis of C1-INH, but prolonged treatment may result in unpleasant side effects, such as virilization in women and suppression of testosterone production in men. [brainkart.com]

Resources on Primary Immunodeficiency Diseases for Physicians and Patients Resource Website Comments European Society for Immunodeficiencies http://www.esid.org Includes diagnostic workup and criteria for 19 primary immunodeficiency diseases; registry [aafp.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]

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]

Prophylactic treatments include attenuated androgens and C1 inhibitor. [primaryimmune.org]

Management and treatment Treatment of the associated disease should generally allow episodes to be controlled and lead to normalization of C1-INH levels. [orpha.net]

Treatment during attacks is to administer fresh frozen plasma or commercially available C1-INH. [brainkart.com]

However, C1-Inh treatment did not attenuate these deficits, and in fact exacerbated the effects in the BM. [docs.lib.purdue.edu]

Prognosis The prognosis depends on the risk of developing hematological manifestations. Rituximab can be an alternative treatment in cases of AAE associated with C1-INH antibodies. [orpha.net]

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]

Prognosis Since complement deficiencies include a wide range of disorders, the prognoses can also vary widely. Some patients remain healthy their entire life. [medical-dictionary.thefreedictionary.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]

Prompt and accurate diagnosis of PID not only helps to direct the most appropriate treatment, and predict prognosis, but also it is important for further genetic counseling for the family. [indianpediatrics.net]

Etiology The edemas are triggered by increased permeability of the blood vessels in response to elevated levels of bradykinin as a result of the C1-INH deficiency. [orpha.net]

They may also have symptoms that suggest autoimmune disease and complement deficiency may be an etiologic factor in the development of autoimmune disease. Inherited deficiency of C1 is rare. [mayomedicallaboratories.com]

^ "Membranoproliferative Glomerulonephritis: Background, Pathophysiology, Etiology". Medscape. Retrieved 21 September 2016. ^ Reference, Genetics Home. "C2 gene". Genetics Home Reference. Retrieved 21 September 2016. ^ Reference, Genetics Home. [en.wikipedia.org]

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]

Relevant External Links for C1QC Genetic Association Database (GAD) C1QC Human Genome Epidemiology (HuGE) Navigator C1QC Atlas of Genetics and Cytogenetics in Oncology and Haematology: C1QC No data available for Genatlas for C1QC Gene Characterization [genecards.org]

Summary Epidemiology Prevalence is unknown. Clinical description Onset most commonly occurs after 50 years of age. [orpha.net]

[…] infections prevention can be taken via immunization for those with complement deficiency. [1] Epsilon-aminocaproic acid could be used to treat hereditary C1-INH deficiency, though the possible side effect of intravascular thrombosis should be weighed. [6] Epidemiology [en.wikipedia.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]

Epidemiology Complement deficiencies are rare. [patient.info]

Useful For Suggests clinical disorders or settings where the test may be helpful Diagnosis of first component of complement (C1) deficiency Investigation of a patient with an absent total complement (CH50) level Clinical Information Discusses physiology, pathophysiology [mayomedicallaboratories.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]

^ "Membranoproliferative Glomerulonephritis: Background, Pathophysiology, Etiology". Medscape. Retrieved 21 September 2016. ^ Reference, Genetics Home. "C2 gene". Genetics Home Reference. Retrieved 21 September 2016. ^ Reference, Genetics Home. [en.wikipedia.org]

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]

Pathophysiology The complement cascade consists of 3 separate pathways that converge in a final common pathway. [emedicine.medscape.com]

Complement is potentially very inflammatory once activated and there are a number of regulatory molecules which either prevent unregulated activation of complement, such as C1 inhibitor (C1INH), or which prevent damage to innocent bystander cells, such [brainkart.com]

This rare condition mutates or prevents C3 protein from forming, lowering the immune system's ability to protect. [16] C4 : C4 deficiency is highly associated with systemic lupus erythematosus. [2] Aβ42, a protein involved in Alzheimer's disease, can [en.wikipedia.org]

(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]

Chapter 21 - The Immune System Immunity : Two Intrinsic Defense Systems Innate (nonspecific) system responds quickly and consists of: First line of defense - intact skin and mucosae prevent entry of microorganisms Second line of defense - antimicrobial [apchute.com]

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]