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Complement Deficiency
Complement deficiency is an immunodeficiency of absent or suboptimal functioning of one of the complement system proteins. Because of redundancies in the immune system, many complement disorders are never diagnosed. Some studies estimate that less than 10% are identified. ''Hypocomplementemia'' may be used more generally to refer to decreased complement levels, while ''secondary complement disorder'' means decreased complement levels that are not directly due to a genetic cause but secondary to another medical condition. Types * Disorders of the proteins that act to ''inhibit'' the complement system (such as C1-inhibitor) can lead to an ''overactive'' response, causing conditions such as hereditary angioedema. * Disorders of the proteins that act to ''activate'' the complement system (such as complement component 3, C3) can lead to an ''underactive'' response, causing greater susceptibility to infections. Signs and symptoms The following symptoms (signs) are consistent with complem ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Immunodeficiency
Immunodeficiency, also known as immunocompromise, is a state in which the immune system's ability to fight infectious diseases and cancer is compromised or entirely absent. Most cases are acquired ("secondary") due to extrinsic factors that affect the patient's immune system. Examples of these extrinsic factors include HIV infection and environmental factors, such as nutrition. Immunocompromisation may also be due to genetic diseases/flaws such as SCID. In clinical settings, immunosuppression by some drugs, such as steroids, can either be an adverse effect or the intended purpose of the treatment. Examples of such use is in organ transplant surgery as an anti- rejection measure and in patients with an overactive immune system, as in autoimmune diseases. Some people are born with intrinsic defects in their immune system, or primary immunodeficiency. A person who has an immunodeficiency of any kind is said to be immunocompromised. An immunocompromised individual may par ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neisseria Meningitidis
''Neisseria meningitidis'', often referred to as the meningococcus, is a Gram-negative bacterium that can cause meningitis and other forms of meningococcal disease such as meningococcemia, a life-threatening sepsis. The bacterium is referred to as a coccus because it is round, and more specifically a diplococcus because of its tendency to form pairs. About 10% of adults are carriers of the bacteria in their nasopharynx. As an exclusively human pathogen, it causes developmental impairment and death in about 10% of cases. It causes the only form of bacterial meningitis known to occur epidemically, mainly in Africa and Asia. It occurs worldwide in both epidemic and endemic form. ''N. meningitidis'' is spread through saliva and respiratory secretions during coughing, sneezing, kissing, chewing on toys and through sharing a source of fresh water. It has also been reported to be Sexually transmitted infection, transmitted through oral sex and cause urethritis in men. It infects its hos ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Complement Component 3
Complement may refer to: The arts * Complement (music), an interval that, when added to another, spans an octave ** Aggregate complementation, the separation of pitch-class collections into complementary sets * Complementary color, in the visual arts Biology and medicine * Complement system (immunology), a cascade of proteins in the blood that form part of innate immunity * Complementary DNA, DNA reverse transcribed from a mature mRNA template * Complementarity (molecular biology), a property whereby double stranded nucleic acids pair with each other * Complementation (genetics), a test to determine if independent recessive mutant phenotypes are caused by mutations in the same gene or in different genes Grammar and linguistics * Complement (linguistics), a word or phrase having a particular syntactic role ** Subject complement, a word or phrase adding to a clause's subject after a linking verb ** Object complement, a word or phrase adding to the direct object of a verb p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Systemic Lupus Erythematosus
Lupus, formally called systemic lupus erythematosus (SLE), is an autoimmune disease in which the body's immune system mistakenly attacks healthy tissue in many parts of the body. Symptoms vary among people and may be mild to severe. Common symptoms include painful and swollen joints, fever, chest pain, hair loss, mouth ulcers, swollen lymph nodes, feeling tired, and a red rash which is most commonly on the face. Often there are periods of illness, called flares, and periods of remission during which there are few symptoms. Children up to 18 years old develop a more severe form of SLE termed childhood-onset systemic lupus erythematosus. The cause of SLE is not clear. It is thought to involve a combination of genetics and environmental factors. Among identical twins, if one is affected there is a 24% chance the other one will also develop the disease. Female sex hormones, sunlight, smoking, vitamin D deficiency, and certain infections are also believed to increa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cryoglobulinemia
Cryoglobulinemia is a rare medical condition characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins composed of immunoglobulins and sometimes complement components. Cryoglobulins specifically form gel-like solids by clumping together and becoming insoluble at temperatures below 37 °C. In the human body, these cryoglobulins precipitate together in small- and medium-sized blood vessels causing occlusions and triggering inflammatory reactions. This leads to a range of symptoms, including joint pain, skin rashes, and kidney problems. Cryoglobulinemia is classified into three groups. Type I cryoglobulinemia has only monoclonal proteins, developing in lymphoproliferative disorders. Type II cryoglobulinemia is the most common, occurring when both monoclonal and polyclonal proteins are present in the bloodstream and is usually linked to chronic Hepatitis C infection. Type III cryoglobulinemia has only polyclonal proteins and is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Endocarditis
Endocarditis is an inflammation of the inner layer of the heart, the endocardium. It usually involves the heart valves. Other structures that may be involved include the interventricular septum, the chordae tendineae, the mural endocardium, or the surfaces of intracardiac devices. Endocarditis is characterized by lesions, known as '' vegetations'', which are masses of platelets, fibrin, microcolonies of microorganisms, and scant inflammatory cells. In the subacute form of infective endocarditis, a vegetation may also include a center of granulomatous tissue, which may fibrose or calcify. There are several ways to classify endocarditis. The simplest classification is based on cause: either ''infective'' or ''non-infective'', depending on whether a microorganism is the source of the inflammation or not. Regardless, the diagnosis of endocarditis is based on clinical features, investigations such as an echocardiogram, and blood cultures demonstrating the presence of endocar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteomyelitis
Osteomyelitis (OM) is the infectious inflammation of bone marrow. Symptoms may include pain in a specific bone with overlying redness, fever, and weakness. The feet, spine, and hips are the most commonly involved bones in adults. The cause is usually a bacterial infection, but rarely can be a fungal infection. It may occur by spread from the blood or from surrounding tissue. Risks for developing osteomyelitis include diabetes, intravenous drug use, prior splenectomy, removal of the spleen, and trauma to the area. Diagnosis is typically suspected based on symptoms and basic laboratory tests as C-reactive protein and erythrocyte sedimentation rate. This is because plain radiographs are unremarkable in the first few days following acute infection. Diagnosis is further confirmed by blood tests, medical imaging, or bone biopsy. Treatment of bacterial osteomyelitis often involves both antimicrobials and surgery. Treatment outcomes of bacterial osteomyelitis are generally good when t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Properdin Deficiency
Properdin deficiency is a rare X-linked disease in which properdin, an important Complement system, complement factor responsible for the stabilization of the alternative C3 convertase, is deficient. There are three forms of properdin deficiencies: Type I, which is identified by the total absence of the properdin protein in the plasma, Type II, which is a low but detectable amount of the properdin protein in the plasma, and Type III, which is a rare case of normal levels of properdin protein, but a dysfunctional variant. One of the first studied cases of properdin deficiency was in 1980 bDavis and Forrestal These families had members with only partial deficiencies which resulted in a lowered consumption of the Complement component 3, C3 protein. Properdin deficiency was studied again shortly after in 1982 bSjoholmin which all of the subjects were deceased shortly after the study because of their disease. The largest study of properdin deficiency was in 1989 bFijenwhich included nine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MBL Deficiency
MBL deficiency or mannose-binding lectin deficiency is an illness that has an impact on immunity. Low levels of mannose-binding lectin, an immune system protein, are present in the blood of those who have this illness. It's unclear if this deficiency increases the risk of recurrent infections in those who are affected. Signs and symptoms Specific infection susceptibility has been linked to low MBL levels. This is especially true when it comes to chronic illnesses like cystic fibrosis, chemotherapy-induced neutropenia, and weakened immunity, which are all present in the neonatal period. Moreover, septic shock and death have been connected to MBL deficiency. Causes Mannose-binding lectin deficiency can result from mutations in the MBL2 gene. Mechanism Mannose-binding lectin (MBL) is a soluble innate immune system pattern recognition molecule. MBL activates the complement lectin pathway by binding to glycoconjugates on the surface of a variety of clinically significant bacteria ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked
Sex linkage describes the sex-specific patterns of inheritance and expression when a gene is present on a sex chromosome (allosome) rather than a non-sex chromosome ( autosome). Genes situated on the X-chromosome are thus termed X-linked, and are transmitted by both males and females, while genes situated on the Y-chromosome are termed Y-linked, and are transmitted by males only. As human females possess two X-chromosomes and human males possess one X-chromosome and one Y-chromosome, the phenotype of a sex-linked trait can differ between males and females due to the differential number of alleles (polymorphisms) possessed for a given gene. In humans, sex-linked patterns of inheritance are termed X-linked recessive, X-linked dominant and Y-linked. The inheritance and presentation of all three differ depending on the sex of both the parent and the child. This makes sex-linked patterns of inheritance characteristically different from autosomal dominance and recessiveness. T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Properdin Deficiency
Properdin deficiency is a rare X-linked disease in which properdin, an important Complement system, complement factor responsible for the stabilization of the alternative C3 convertase, is deficient. There are three forms of properdin deficiencies: Type I, which is identified by the total absence of the properdin protein in the plasma, Type II, which is a low but detectable amount of the properdin protein in the plasma, and Type III, which is a rare case of normal levels of properdin protein, but a dysfunctional variant. One of the first studied cases of properdin deficiency was in 1980 bDavis and Forrestal These families had members with only partial deficiencies which resulted in a lowered consumption of the Complement component 3, C3 protein. Properdin deficiency was studied again shortly after in 1982 bSjoholmin which all of the subjects were deceased shortly after the study because of their disease. The largest study of properdin deficiency was in 1989 bFijenwhich included nine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance, such as incompl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
