Individuals with genetically determined complement deficiencies have a variety of clinical presentations. [sinobiological.com]

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]

A previously healthy 19–year–old female, presented with 1 day of fever, severe occipital headaches, nausea, vomiting, diarrhea, severe myalgias and polyarthralgias. She is attending her spring semester in college while living in a dormitory. [shmabstracts.com]

Some forms of complement deficiency will present within the first months to first years of life; others will present in later childhood or adolescence. Sex. [dermnetnz.org]

Why do babies with SCID present as healthy and thriving until about 3 months of age? They are born with an infusion of IgG from mom, which begins to wane by about 3 months, when they should be starting to make their own Ig. [brainscape.com]

• Periorbital Edema

  Anatomic Location Signs & Symptoms Imaging Studies Laboratory Data Sinusitis 49 Tenderness overlying sinuses Dark circles beneath eyes Periorbital edema Pharyngeal erythema Purulent material in posterior pharynx Nasal mucosal erythema Purulent material [antimicrobe.org]

Workup often shows hypocomplementemia (↓ C3/C4), renal failure, eosinophilia and eosinophiluria. [medicalmediareview.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]

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]

Any other aspects of treatment that may interfere with your ability to function. 2. Variability of your response to treatment. Your response to treatment and the adverse or beneficial consequences of your treatment may vary widely. [ssa.gov]

Scientists are exploring gene therapy treatment to replace the defective gene that is the basis of many primary immunodeficiency disorders. [uchicagokidshospital.org]

Treatment Although primary complement deficiencies have no known cure, the associated infections, collagen vascular disease, and renal disease require prompt treatment. [doctor-clinic.org]

Thereafter, the patients have a variable prognosis. GBS is a treatable disorder. [clinicaltrials.gov]

The prognosis varies with the abnormality and the severity of associated diseases. Causes Primary complement deficiencies are inherited as autosomal recessive traits, except for deficiency of C1 esterase inhibitor, which is autosomal dominant. [doctor-clinic.org]

In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. [genecards.org]

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]

They may also have symptoms that suggest autoimmune disease and complement deficiency may be an etiologic factor in the development of autoimmune disease. Approximately 20 cases of C4 deficiency have been reported. [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]

It is suspected that genetic defects play a role in the etiology of these diseases. Causes and Treatments Modern high throughput technologies, like mRNA microarrays, have enabled researchers to investigate diseases at a genome-wide level. [courses.lumenlearning.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 CFI Genetic Association Database (GAD) CFI Human Genome Epidemiology (HuGE) Navigator CFI Atlas of Genetics and Cytogenetics in Oncology and Haematology: CFI No data available for Genatlas for CFI Gene Mutations in alternative [genecards.org]

[…] 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]

[…] background on disease expression. ( 11859149 ) Mitchell D.A....Walport M.J. 2002 30 Survey of Turkish systemic lupus erythematosus patients for a particular mutation of C1Q deficiency. ( 10728448 ) Topaloglu R....Walport M.J. 2000 31 Molecular, genetic and epidemiologic [malacards.org]

Epidemiology Complement deficiencies are rare. [patient.info]

The elucidation of the pathophysiological basis for the different clinical presentations of complement-deficient individuals has contributed to a better understanding of the physiological role of complement in normal individuals. [sinobiological.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]

Useful For Suggests clinical disorders or settings where the test may be helpful Diagnosis of C4 deficiency Investigation of a patient with an undetectable total complement (CH50) level Clinical Information Discusses physiology, pathophysiology, and general [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]

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]

Practicing safer sex and avoiding the sharing of body fluids may help prevent HIV/AIDS. Ask your provider if a medicine called Truvada is right for you to prevent HIV infection. [medlineplus.gov]

Prevention There is currently no way to prevent complement deficiencies. [doctor-clinic.org]

Primary immunodeficiency disorders can be controlled and treated, but they can’t be prevented. Secondary disorders can be prevented in a number of ways. [healthline.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]

Complement Protein H Deficiency is an immunological disorder caused by a deficiency of Factor H, a protein that prevents the immune system from attacking a person's own cells, but allows it to attack bacteria and viruses. [house.wikia.com]