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]

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]

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]

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]

• Sepsis

  People with a classical pathway deficiency are at high risk of developing autoimmune disease but have a lower risk of overwhelming sepsis. Screening Family members should be screened. [patient.info]

  Depending on the kind of complement deficiency, patients can present with viral infections including herpes simplex and influenza A, as well as pneumonia, ear infections, colds, meningococcal disease and sepsis. Autoimmune diseases. [dermnetnz.org]

  Transient activation and depletion of complement can also occur with sepsis, viremia, burns and trauma. [worldallergy.org]

  People with complement component 2 deficiency have a significantly increased risk of recurrent bacterial infections, specifically of the lungs (pneumonia), the membrane covering the brain and spinal cord (meningitis), and the blood ( sepsis ), which may [ghr.nlm.nih.gov]

  Deficiencies in the complement cascade can lead to overwhelming infection and sepsis. [emedicine.medscape.com]

• Anemia

  Dyserythropoietic anemia and Hypochromic microcytic anemia. [cegat.de]

  Some disorders associated with secondary deficiencies of complement are asplenia, sickle cell anemia, protein-deficient status, acute nephritis, immune complex disease, and bacteremia. [doctor-clinic.org]

  Preliminary screening for signs of autoimmune disease in the patient with PID can include hemolytic anemia, markers for inflammation, and the presence of circulating autoantibodies (eg, rheumatoid factor and antinuclear antibody). [pedsinreview.aappublications.org]

  It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. [genecards.org]

  Humoral Immunity Deficiencies Disorder Inheritance Gene Affected Clinical Findings Common variable immunodeficiency Variable TACI, ICOS, BAFFR Recurrent sinopulmonary infections, autoimmune disorders (eg, immune thrombocytopenia, autoimmune hemolytic anemia [merckmanuals.com]

• Malnutrition

  Good nutrition may prevent acquired immunodeficiency caused by malnutrition. [medlineplus.gov]

  Secondary immunodeficiencies are acquired from various environmental factors such as malnutrition, immunosuppressive drugs, and aging. [courses.lumenlearning.com]

  The following can cause a secondary immunodeficiency disorder: severe burns chemotherapy radiation diabetes malnutrition Examples of secondary immunodeficiency disorders include: AIDS cancers of the immune system, like leukemia immune-complex diseases [healthline.com]

  Malnutrition.. .. .. Infection (congenital rubella, HIV infection, infectious mononucleosis and other such infections).. .. .. Protein-losing enteropathy.. .. .. Nephrosis.. .. .. Sickle cell disease.. .. .. [hawaii.edu]

  […] lupus and rheumatoid arthritis Hereditary angioedema Acquired angioedema Various types of kidney disease, including glomerulonephritis, lupus nephritis, membranous nephritis, and IgA nephropathy as well as kidney transplant rejection Cirrhosis Hepatitis Malnutrition [labtestsonline.org]

• Anorexia

  […] implicated. [15] Burns, hemodialysis with cellophane membranes, cardiopulmonary bypass and injection of iodinated radiocontrast material cause a direct activation of the alternative pathway. 2) Non-immunological causes Patients with severe malnutrition and anorexia [sjkdt.org]

• Cough

  Others, who suffer from frequent infections, may develop a high fever, headaches, diarrhea, with a stiff neck, or a cough with chest pain. [doctor-clinic.org]

  Others, who suffer from frequent infections, may develop a high fever, diarrhea, headaches with a stiff neck, or a cough with chest pain. [medical-dictionary.thefreedictionary.com]

  […] disorders may include: Frequent or ongoing illness Increased risk of certain cancers or tumors Increased risk of infection Call your provider right away if you are on chemotherapy or corticosteroids and you develop: A fever of 100.5°F (38°C) or higher A cough [medlineplus.gov]

  […] edema Pharyngeal erythema Purulent material in posterior pharynx Nasal mucosal erythema Purulent material inside nose Facial pain Low grade fever > 100.5 F Tooth pain Nasal congestion; particularly when unilateral or worse on one side Postnasal drip Cough [antimicrobe.org]

  He then developed a severe cough and increased work of breathing. No other symptoms are noted. The patient was born in a refugee camp and has lived in Florida and Texas before moving to Hawaii 3 months ago. [hawaii.edu]

• Dry Cough

  Involvement of the exocrine glands of the upper airways may result in persistent dry cough. [ssa.gov]

• Arthritis

  Results Our cohort included 84 patients with JIA (44 % female, 30 oligoarticular JIA, 23 polyarticular JIA, 18 systemic-onset JIA, 9 enthesitis-related arthritis, 1 psoriatic arthritis, 3 undifferentiated arthritis), 21 patients with SLE (90 % female) [link.springer.com]

  Documentation of inflammatory arthritis. [ssa.gov]

  Arthritis Rheum 1982; 25: 767. 10. Provost T.T., Arnett F.C. & Reichlin M. Homozygous C2 deficiency, lupus erythematosus, and anti-Ro (SSA) antibodies. Arthritis Rheum 1983; 26 :1279. 11. BellD.A. and Maddison P.J. [edoj.org.eg]

  Arthritis Rheum (1982) 25 (11):1271–7. doi:10.1002/art.1780251101 PubMed Abstract | CrossRef Full Text | Google Scholar 6. Hochberg MC. [frontiersin.org]

  Nephritis Rashes Pneumococcal infections Circulating immune complexes (CIC) may form with C1q Elevated in autoimmune disease (eg, systemic lupus erythematosus [SLE], rheumatoid arthritis, certain types of glomerulonephritis) Circulating immune complexes [arupconsult.com]

• Fracture

  STAT3 (dominant) TYK2, DOCK8 (recessive) Sinopulmonary infections; staphylococcal abscesses of skin, lungs, joints, and viscera; pulmonary pneumatoceles; pruritic dermatitis; coarse facial features; delayed shedding of baby teeth; osteopenia; recurrent fractures [merckmanuals.com]

  Therefore, recurrent staphylococcal infections involving the skin, lungs and joints with other features including a distinctive facial appearance, dental abnormalities and bone fractures are essential for the diagnosis. [hawaii.edu]

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]

• Neutropenia

  Abnormal CBC findings may point out to a specific disease such as: 1) Lymphopenia (less than 2,000) in XLA, SCID, WAS, AT, DiGeorge, malnutrition and AIDS. 2) Neutropenia in hyper IgM syndrome, cyclic neutropenia, drug-induced neutropenia, Shwachman syndrome [hawaii.edu]

  Autosomal dominant ELA2 Pyogenic bacterial infections during recurrent episodes of neutropenia (eg, every 14 to 35 days) CD = clusters of differentiation; CHS = Chédiak-Higashi syndrome; CYBB = cytochrome b-245, beta polypeptide; ELA = elastase; GDP [merckmanuals.com]

  Malignancy can also directly cause bone marrow failure, resulting in neutropenia and impaired T-cell function. [worldallergy.org]

  Defects of Phagocytes (PID05), including differential diagnoses of Neutropenia, Mycobacteriosis, Leukocyte adhesion deficiency, chronic granulomatous disease. [cegat.de]

  Severe congenital neutropenia and leukocyte adhesion deficiency type 1 are phagocytic disorders that usually present within the first few weeks of life. [aafp.org]

• Leukopenia

  […] pneumonia, splenomegaly; in 10%, gastric carcinoma and lymphoma Usually diagnosed in patients aged 20–40 yr Hyper-IgM syndrome with AID or UNG deficiencies Autosomal recessive AID, UNG Similar to X-linked hyper-IgM syndrome but with lymphoid hyperplasia No leukopenia [merckmanuals.com]

  Major organ or body system involvement can include: Respiratory (pleuritis, pneumonitis), cardiovascular (endocarditis, myocarditis, pericarditis, vasculitis), renal (glomerulonephritis), hematologic (anemia, leukopenia, thrombocytopenia), skin (photosensitivity [ssa.gov]

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 for immunodeficiency disorders commonly includes antibiotics and immunoglobulin therapy. [healthline.com]

There are no specific treatments available as yet for complement deficiencies. [dermnetnz.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]

[…] 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]

[…] 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]

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]

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]

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]

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]

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]

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

Prevention There is currently no way to prevent complement deficiencies. Resources Organizations Immune Deficiency Foundation. 25 W. Chesapeake Ave., Suite 206, Towson, MD 21204. (800) 296-4433. http://www.primaryimmune.org. [medical-dictionary.thefreedictionary.com]