Diseases

Common variable immunodeficiency

Common variable immune deficiency is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses. CVID is characterized by low levels of most or all of the immunoglobulin (Ig) classes. This causes affected people to get frequent infections, particularly in the sinuses, lungs, ears and digestive tract. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinaltract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas.

Approximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body’s tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; the most commonly occurring autoimmune disorders are immune thrombocytopenia purpura, which is an abnormal bleeding disorder caused by a decrease in platelets, and autoimmune hemolytic anemia, which results in premature destruction of red blood cells. Other autoimmune disorders such as rheumatoid arthritiscan occur. Individuals with CVID also have a greater than normal risk of developing certain types of cancer, including a cancer of immune system cells called non-Hodgkin lymphoma and less frequently, stomach (gastric) cancer.

People with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood; most people with CVID are diagnosed in their twenties or thirties. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood.

There are many different types of CVID that are distinguished by genetic cause. People with the same type of CVID may have varying signs and symptoms.

 

Compartment syndrome

Compartment Syndrome: Excessive bleeding or swelling following surgery or injury can result in increased pressure within a section of the arms, legs or buttocks. The increased pressure affects blood flow and can result in tissue death necessitating amputation, nerve damage or muscle damage. The condition can be chronic or acute which is a medical emergency

Complement component deficiency

Complement component deficiency: Complement components are a part of the immune defense system involved in destroying and removing invading pathogens such as bacteria. A deficiency of the complement components can affect the ability of the body's immune system to function properly. The disorder which can be partial or complete and may be inherited or acquired. The severity of the symptoms is determined by which complement component (there are at least 30 of them) is deficient and whether the deficiency is partial or complete

Complement Factor I (CFI) deficiency

Complement Factor I (CFI) deficiency is a rare genetic disorder affecting the immune system, specifically the complement system. Individuals with CFI deficiency are prone to recurrent infections, particularly those caused by encapsulated bacteria like Neisseria meningitidis and Streptococcus pneumoniae. In addition to infections, some individuals may also experience autoimmune or inflammatory conditions, including glomerulonephritis with isolated C3 deposits, rheumatoid arthritis, or systemic lupus erythematosus. 

CFI deficiency is caused by mutations in the CFI gene, which provides instructions for making the CFI protein. 

Impact on the Complement System:
The CFI protein is a crucial regulator of the complement system, an important part of the innate immune response. It helps control the activation and amplification of the complement cascade, preventing excessive inflammation and tissue damage. 

Infections:
CFI deficiency leads to impaired complement-mediated opsonization and pathogen clearance, making individuals more susceptible to infections, especially those caused by encapsulated bacteria. 

Autoimmune/Inflammatory Conditions:
Defective CFI function can also lead to dysregulation of the immune system, potentially contributing to autoimmune and inflammatory diseases

Complement receptor deficiency

Complement receptor deficiency: Complement receptors are a part of the immune defense system and they initiate the process of destroying and removing invading pathogens. A deficiency of complement receptors thus affects the immune system. It may be inherited or be associated with autoimmune disorders such as systemic lupus erythematosus diabetic nephropathy patients on hemodialysis.

Complete atrioventricular canal

Complete atrioventricular canal: A rare form of congenital heart disease where the there is a hole in the heart wall that separates the upper heart chambers, a hole the heart wall that separates the lower heart chambers and heart valve abnormalities (tricuspid and mitral valves). This results in excessive blood circulation in the lungs leading to congestive heart failure in untreated cases.

Complex 1 mitochondrial respiratory chain deficiency

Complex 1 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (NADH CoQ) disrupts cellular processes and causes various organic acid disorders. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. Presentation may range from infantile death to various disorders such as Leigh's disease, Parkinson's disease and cardiomyopathy.

Complex 2 mitochondrial respiratory chain deficiency

Complex 2 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (succinate CoQ reductase) disrupts cellular processes. The deficiency may result variable symptoms and condition including conditions such as Leigh's syndrome, myopathy and Kearns-Sayre syndrome

Complex 3 mitochondrial respiratory chain deficiency

Complex III dificiency is one type of a mitochondrial diseases and a rare genetic defect where an enzyme deficiency (CoQ-Cytochrome C reductase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity.

Long Name: Ubiquinone-cytochrome c oxidoreductase deficiency.

Source: wrongdiagnosis

Complex 4 mitochondrial respiratory chain deficiency

Complex 4 mitochondrial respiratory chain deficiency: A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called enzyme cytochrome C oxidase (COX or Complex IV) which is needed in the process of energy production by body cells. There are two subtypes: the benign infantile type only affects muscles whereas the fatal infant type affects the heart and kidneys as well as the muscles.

Complex 5 mitochondrial respiratory chain deficiency

Complex 5 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (ATP synthetase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as Leber's myopathy, Leigh syndrome, cardiomyopathy and NARP (neuropathy, ataxia, retinitis pigmentosa).

Conductive hearing loss

Conductive hearing loss occurs when there is a problem conducting sound waves anywhere along the route through the outer ear, tympanic membrane (eardrum), or middle ear (ossicles). This type of hearing loss may occur in conjunction with sensorineural hearing loss (mixed hearing loss) or alone.

Condyloma

Condyloma: A type of wart transmitted through direct sexual contact and is caused by the human papilloma virus.

Condyloma acuminatum

Main name of condition: Condyloma. Other names or spellings for Condyloma: Condyloma acuminatum, genital warts, venereal warts

 

Condyloma: A type of wart transmitted through direct sexual contact and is caused by the human papilloma virus.

Cone dystrophy

Cone dystrophy: A rare inherited eye disorder characterized by the deterioration of the cone cells in the retina of the eye leading to vision loss.

Cone rod dystrophy

Cone rod dystrophy: A rare inherited eye disorder characterized by the deterioration of the cone and rod cells in the retina of the eye leading to vision loss

Cone rod dystrophy amelogenesis imperfecta

Cone rod dystrophy - amelogenesis imperfecta: A rare genetic disorder characterized by degeneration of parts of the eye that absorb light (cone rod dystrophy) as well as teeth abnormalities.

Congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). Most of these conditions involve excessive or deficient production of sex steroids and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults. Only a small minority of people with CAH can be said to have an intersex condition, but this attracted American public attention in the late 1990s and many accounts of varying accuracy have appeared in the popular media.

Congenital absence of the sternocleidomastoid muscle

Congenital absence of the sternocleidomastoid muscle: Absent neck muscle - in particular, the muscle that runs from behind the ear and down to the collar bones. These muscles allow the hear to flex and rotate. One or both of the muscles may be absent

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency

Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency: A rare form of congenital adrenal hyperplasia characterized by a deficiency of 11-Beta-hydroxylase which results in excess androgen production and hypertension. The disorder can occur in virilizing, hypertensive and salt-wasting forms and symptoms may range from mild to severe.

Congenital adrenal hyperplasia type 2

Congenital adrenal hyperplasia - simple virilizing form in males: A group of disorder that occur when a deficiency of 21-hydroxylase impairs the normal process of making adrenal corticosteroids. The simple virilizing form involves a moderate deficiency of 21-hydroxylase and differs in its effects on males and females.

Congenital afibrinogenemia

Congenital Afibrinogenemia: A rare disorder involving the inability to make fibrinogen which is essential for the process of blood clotting.

Congenital alopecia X-linked

Congenital alopecia X-linked: A rare inherited form of reduced or absent of scalp hair from infancy. As it is X-linked it tends to affect males only.

Congenital amputation

Congenital amputation is the absence of a fetal limb or fetal part at birth. This condition may be the result of the constriction of fibrous bands within the membrane that surrounds the developing fetus (amniotic band syndrome) or the exposure to substances known to cause birth defects (teratogenic agents). Other factors, including genetics, may also play a role.

Congenital aneurysms of the great vessels

Congenital aneurysms of the great vessels: A bulge in one of the main blood vessels in the body - pulmonary artery, pulmonary veins, vena cava and aorta. The condition is generally asymptomatic unless the aneurysm becomes very large or bursts which can result in rapid death depending on the location of the aneurysm.