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Glossary for Immune deficiency conditions

  • AIDS: A term given to HIV patients who have a low CD4 count (below 200) which means that they have low levels of a type of immune cell called T-cells. AIDS patients tend to develop opportunistic infections and cancers. Opportunistic infections are infections that would not normally affect a person with a healthy immune system. The HIV virus is a virus that attacks the body's immune system.
  • Abscess: General name for any pus-filled lump or swelling
  • Acute Renal Failure: Syndrome characterised by rapid decline in kidney function with accumulation of waste products in the blood, occurring over a period of days to weeks
  • Acute lymphoblastic leukemia: Cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets.
  • Acute lymphoblastic leukemia, Susceptibility to: Cancer of the white blood cells characterized by the presence of excessive lymphoblasts. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. There are two subtypes of leukemia linked to a genetic anomaly which increases a person's susceptibility to developing the cancer. Type 1 is linked to a defect on chromosome 10q21 and type 2 is linked to a defect on chromosome 7p12.2.
  • Acute lymphoblastic leukemia, Susceptibility to, 1: Cancer of the white blood cells characterized by the presence of excessive lymphoblasts. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. There are two subtypes of leukemia linked to a genetic anomaly which increases a person's susceptibility to developing the cancer. Type 1 is linked to a defect on chromosome 10q21.
  • Acute lymphoblastic leukemia, Susceptibility to, 2: Cancer of the white blood cells characterized by the presence of excessive lymphoblasts. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. There are two subtypes of leukemia linked to a genetic anomaly which increases a person's susceptibility to developing the cancer. Type 2 is linked to a defect on chromosome 7p12.2.
  • Acute lymphoblastic leukemia, adult: Cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets.
  • Acute lymphocytic leukemia: Most common child form of leukemia; can also affect adults especially over 65.
  • Acute myeloid leukemia: A form of rapidly progressing blood cancer resulting in the rapid proliferation of granulocytes and monocytes, red blood cells and platelets.
  • Adenosine deaminase deficiency: A rare disorder where a deficiency in the activity of adenosine deaminase causes severe immunodeficiency which in turn results in frequent severe bacterial, viral and fungal infections.
  • Allergy-like conditions: Medical conditions with similar effects to those of allergies.
  • Aspergillosis: Infection with a fungus called Aspergillus.
  • Ataxia Telangiectasia: A rare inherited childhood disorder involving progressive degeneration of the nervous system.
  • Autoimmune polyendocrinopathy syndrome, type 1: A very rare autoimmune disorder characterized by autoimmune polyendocrinopathy (APE), candidiasis (C) and ectodermal dysplasia (ED).
  • Biotin deficiency: Vitamin H deficiency
  • Bloom Syndrome: A rare genetic inherited genetic disorder which mainly affects Ashkenazic Jewish people and is characterized by short stature, malar hypoplasia, and a telangiectatic erythema of the face.
  • Cachexia: physical wasting with loss of weight and muscle mass caused by disease
  • Cancer: Abnormal overgrowth of body cells.
  • Candidiasis: Fungal infection of moist areas such as mouth or vagina
  • Chediak-Higashi Syndrome: An inherited immune system disorder characterized by reduced pigmentation, recurrent infection and neurological disorders.
  • Chromosome 22, microdeletion 22q11: A rare chromosomal disorder where a portion of the long arm of chromosome 22 is deleted.
  • Chromosome 22q deletion: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients.
  • Chromosome 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
  • Chronic Granulomatous Disease: A very rare inherited blood disorder where certain cells involved with immunity (phagocytes) are unable to destroy bacteria and hence the patient suffers repeated bacterial infections.
  • Chronic Illness: Any form of continuing chronic illness.
  • Chronic Kidney Disease: Long-term and generally irreversible disease of the kidneys due to infection, obstruction, congenital diseases or generalised diseases causing failure of the kidneys' normal functions.
  • Cirrhosis of the liver: Scarring of the liver from alcohol or other causes.
  • Classical Hodgkin disease: Hodgkin's disease is a type of cancer characterized by the abnormal proliferation of a type of white blood cell called lymphocyte. Hodgkin's lymphoma is classified into classical types and nodular lymphocyte predominant type. The nodular form tends to be more localized than the classical form. Classical Hodgkin's lymphoma is further subdivided into four subgroups depending on the cell composition of the lymphoma: nodular sclerosing, mixed cellularity, lymphocyte rich and lymphocyte depleted.
  • Common Variable Immunodeficiency: An immunodeficiency disorder involving low blood gamma globulin levels which results in an increased susceptibility to infections. The condition may be inherited or can be caused by certain drugs (levamisole, hydantoin and carbamazepine).
  • Congenital Athyma: The absence of the thymus in a newborn. The thymus gland is located beneath the breastbone and above the windpipe and heart. It is made up of lymphatic tissue and is believed to be responsible for supporting the development of the immune system from the fetal stage through to puberty. After puberty, the thymus gland tends to shrink. Thus, the absence of the thymus results primarily in immune deficiency and lack of functioning T cells.
  • Cryptosporiosis: Contagious parasitic digestive infection
  • Cystic Fibrosis: Cystic fibrosis is a hereditary disease affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure.
  • Defective expression of HLA class 1: A genetic defect involving a deficiency of major histocompatibility complex class I which manifests as poor immunity. This deficiency tends to result in chronic respiratory tract infections and chronic lung disease. A deficiency of class II tends to cause severe combined immunodeficiency which manifests as systemic infections that do not appear in Class I deficiency.
  • DiGeorge's syndrome: Rare form of primary immune deficiency
  • Diabetes: Failing or reduced ability of the body to handle sugars.
  • Diarrheagenic Escherichia coli: Various E-coli bacteria that can cause diarrhea
  • Ehrlichiosis: Bacterial tick-borne disease
  • Elderly conditions: Any of the conditions affecting the elderly.
  • Flu: Very common viral respiratory infection.
  • Food poisoning: Poisoning from a substance or microbe in food.
  • Fungal infections: Any condition caused by fungus.
  • Fungal meningitis: Fungal meningitis is an infection that causes swelling and irritation of the tissue around the brain and spinal cord. It usually strikes people whose weakened immune systems can't fight off infection. The disease is not common. but it can be very serious.
  • Group A Streptococcal Infections: "Strep" bacteria responsible for strep throat, impetigo and some other strep conditions.
  • Group B Streptococcal Infections: "Strep" bacteria that may affect newborns and the immune-compromised; compare strep A.
  • HIV/AIDS: HIV is a sexually transmitted virus and AIDS is the progressive immune failure that HIV causes.
  • Hodgkin's Disease: A form of cancer that affects the lymphatic system.
  • Hodgkin's disease, nodular sclerosis: Hodgkin's disease is a type of cancer characterized by the abnormal proliferation of a type of white blood cell called lymphocyte. Hodgkin's lymphoma is classified into classical types and nodular lymphocyte predominant type. The nodular form tends to be more localized than the classical form. Classical Hodgkin's lymphoma is further subdivided into four subgroups depending on the cell composition of the lymphoma: nodular sclerosing, mixed cellularity, lymphocyte rich and lymphocyte depleted. The nodular sclerosing form is the most common subtype of classical Hodgkin's disease.
  • Hyper-IgM Syndrome: A rare inherited immunodeficiency disorder which causes frequent infections involving the ears, eyes, sinuses, lungs, skin, respiratory tract and other areas of the body.
  • Hyperdibasic aminoaciduria type 2: A rare inborn urea cycle disorder characterized by an enzyme defect in the amino acid transporter gene SLC7A7 (positive amino acid transporter).
  • Hypersplenism: A condition which is characterized by the exaggeration of blood degrading function of the spleen
  • IgG Deficiency: A deficiency of immunoglobulin G which affects the immune system.
  • Immune disorders: Disorders that affect the immune system
  • Immunodeficiency with short limb dwarfism: A very rare condition where short-limbed dwarfism is associated with immunodeficiency.
  • Immunodeficiency, combined, severe, due to ZAP70 deficiency: A very rare, recessively inherited form of severe combined immunodeficiency.
  • Immunologic Deficiency Syndromes: Syndromes involving a defect or deficiency in the immune system. Often there are other features associated with the syndrome. Examples of such syndromes includes DiGeorge syndrome, agammaglobulinemia and Wiskott-Aldrich syndrome. The characteristic symptom is an increased susceptibility to infection. The severity is variable depending on the nature of the defect.
  • Invasive candidiasis: Severe fungal infection usually in immunocompromised persons
  • Invasive group A Streptococcal disease: Infection with Group A Streptococcal bacteria
  • Juvenile Scleroderma: Scleroderma that occurs in children. Scleroderma is a connective tissue disease that can affect the skin, blood vessels, the immune system and sometimes even the organs may be involved. The disorder may be localized or affect large areas of the body.
  • Kotzot-Richter syndrome: A rare congenital disorder characterized by lack of skin and eye pigmentation, problems with the immune system, blood disorders and other anomalies.
  • Kwashiorkor: A malnutrition state that is produced by severe protein deficiency
  • Legionnaires' disease: A severe respiratory disease which is caused by the Legionella pneumophila bacteria. The condition can result in pneumonia and can be life-threatening.
  • Leukemia, Lymphocytic, Acute, L1: Acute lymphocytic leukemia is a cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. There are three main subtypes (L1, L2 and L3) which are differentiated by the appearance of the cancerous cells: L1 is characterized by small, uniform cancer cells with a round nucleus and very little cytoplasm. L1 has a better prognosis than L2. L1 is the main form in children (about 85%) but is less common in adults (about 30%).
  • Leukemia, Lymphocytic, Acute, L2: Acute lymphocytic leukemia is a cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. There are three main subtypes (L1, L2 and L3) which are differentiated by the appearance of the cancerous cells: L2 is characterized by larger cells, an irregular-shaped nucleus, more cytoplasm and significant variation between cells. L2 has a poorer prognosis than L1. L2 is the main form in adults (about 65%) but is less common in children (about 15%).
  • Leukemia, Lymphocytic, Acute, L3: Acute lymphocytic leukemia is a relatively aggressive cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. There are three main subtypes (L1, L2 and L3) which are differentiated by the appearance of the cancerous cells. L3 is quite uncommon but is very similar to Burkitt's lymphoma - in fact, they may be considered the same disease with different manifestations.
  • Leukemia, Monocytic, Acute: A cancer of the blood-forming tissues of the bone marrow involving the proliferation of a type of infection-fighting white blood cell called a monocyte. Acute leukemia involves a more rapid proliferation of cancer cells compared to chronic forms of leukemia.
  • Leukemia, Myeloid, Philadelphia-Negative: Acute lymphocytic leukemia is a relatively aggressive cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. The Philadelphia negative form of the condition is not associated with a genetic mutation. It is distinguished from the positive form by the clinical course which is initially the same but progresses to eventual bone marrow failure without a distinct increase in blast cells. Other differences include poor response to chemotherapy, lower white blood cell counts, greater monocytosis, less basophilia, lower bone marrow myeloid to erythroid ratio and increased likelihood of developing thrombocytopenia. Philadelphia negative patients also tend to be older and median survival rates tend to be poorer.
  • Leukemia, Myeloid, Philadelphia-Positive: A relatively aggressive cancer of the cells that produce white blood cells. The Philadelphia form of myeloid leukemia carries a relatively poor prognosis. It involves an acquired genetic mutation which results in the production tyrosine kinase which causes too many abnormal white blood cells to be produced which results in a shortage of other blood cell types. Treatment is aimed at inhibiting the production of tyrosine kinase.
  • Leukocyte adhesion deficiency (LAD): A rare inherited disorder characterized by abnormal neutrophil functioning which reduces the body's immunity. The abnormal neutrophils are unable to be transported to sites of infection due to their inability to adhere to certain blood vessel components which would normally lead them to the infection site. Infections may be life-threatening as the body is unable to destroy bacteria effectively. There are two subtypes with type I resulting in more infections and a lesser degree of developmental delay.
  • Listeriosis: Bacterial food poisoning
  • Liver failure: Acute liver failure (ALF) is an uncommon condition in which the rapid deterioration of liver function results in coagulopathy and alteration in the mental status of a previously healthy individual.
  • Lymphocyte depletion Hodgkin's disease: Hodgkin's disease is a type of cancer characterized by the abnormal proliferation of a type of white blood cell called lymphocyte. Hodgkin's lymphoma is classified into classical types and nodular lymphocyte predominant type. The nodular form tends to be more localized than the classical form. Classical Hodgkin's lymphoma is further subdivided into four subgroups depending on the cell composition of the lymphoma: nodular sclerosing, mixed cellularity, lymphocyte rich and lymphocyte depleted. The lymphocyte depleted form is the least common form of Hodgkin's disease.
  • Lysinuric protein intolerance: A rare inborn urea cycle disorder characterized by an enzyme defect in the amino acid transporter gene SLC7A7 (positive amino acid transporter).
  • Malabsorption syndrome: is an alteration in the ability of the intestine to absorb nutrients adequately into the bloodstream
  • Marasmus: A form of malnutrition caused by a severe deficiency of both protein and calories
  • Melanoma: Melanoma is the most dangerous type of skin cancer. It is the leading cause of death from skin disease. It involves cells called melanocytes, which produce a skin pigment called melanin. Melanin is responsible for skin and hair color.
  • Melioidosis: Bacterial infection from soil or water.
  • Mendelian susceptibility to atypical mycobacteria: A very rare group of disorders where a person without an immune deficiency is susceptible to infection by weak mycobacterial organisms, nontuberculous and environmental mycobacteria e.g. Calmette-Guerin Bacillus (BCG). The severity of the disorder is greatly variable and ranges from a localized recurring non-tuberculous mycobacterial infection to a potentially fatal BCG infection. Most people who are infected with these organisms have no symptoms but a genetic mutation in some people makes them more susceptible.
  • Methotrexate -- Teratogenic Agent: There is evidence to indicate that exposure to Methotrexate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Microcephalic primordial dwarfism, Toriello type: A very rare syndrome characterized mainly by dwarfism, mental retardation and other anomalies.
  • Mixed cellularity Hodgkin's disease: Hodgkin's disease is a type of cancer characterized by the abnormal proliferation of a type of white blood cell called lymphocyte. Hodgkin's lymphoma is classified into classical types and nodular lymphocyte predominant type. The nodular form tends to be more localized than the classical form. Classical Hodgkin's lymphoma is further subdivided into four subgroups depending on the cell composition of the lymphoma: nodular sclerosing, mixed cellularity, lymphocyte rich and lymphocyte depleted. The mixed cellularity type if often associated with infection with HIV or Epstein Barr virus.
  • Molluscum contagiosum: Common wart-causing virus.
  • Multiple Myeloma: A rare malignant cancer that occurs in the bone marrow. More common in skull, spine, rib cage, pelvis and legs.
  • Multiple carboxylase deficiency, propionic acidemia: A disorder of fat metabolism where the body is unable to convert fat to energy due to the lack of a number of enzymes (carboxylases). Sufferers need to eat regularly to prevent symptoms. Symptoms are determined by the size and exact location of the tumor.
  • Mycobacterial infections: Any infection that is caused by a mycobacterial organisms
  • Myelodysplastic syndromes: A group of syndromes characterized by a disruption in the production of blood cells. Often the bone marrow increases production of various blood cells but because many of them are defective, they are destroyed before the reach the blood stream.
  • Myeloma: A primary malignancy of the plasma cells
  • Myeloperoxidase deficiency: A disorder where and enzyme (myeloperoxidase) deficiency which impairs the ability of the body's immune system to destroy invading bacteria and other pathogens. The condition may be due to inherited genetic anomalies or such things as lead poisoning, pregnancy, sepsis, lead poisoning and leukemias. Many patients are asymptomatic and symptomatic patients are more prone to serious fungal infections.
  • Myotonic Dystrophy: An inherited disorder characterized by progressive muscle weakness and wasting as well as eye defects, heart abnormalities and other anomalies. The severity of the condition is greatly variable. There are two type of myotonic dystrophy with type 1 being more severe than type 2.
  • Nodular sclerosing Hodgkin's lymphoma: Hodgkin's disease is a type of cancer characterized by the abnormal proliferation of a type of white blood cell called lymphocyte. Hodgkin's lymphoma is classified into classical types and nodular lymphocyte predominant type. The nodular form tends to be more localized than the classical form. Classical Hodgkin's lymphoma is further subdivided into four subgroups depending on the cell composition of the lymphoma: nodular sclerosing, mixed cellularity, lymphocyte rich and lymphocyte depleted.
  • Non-Hodgkin's Lymphoma: A type of lymphoma, a cancer affecting lymph nodes and the immune system.
  • OLEDAID: A rare syndrome characterized mainly by a weak immuned system, bone problems, lymphoedema and hair, teeth and nail abnormalities. Death usually occurs during the first few years of life due to overwhelming infections.
  • Occupational Cancer -- Hodgkin's lymphoma: Occupational exposure to wood dust can increase the risk of developing Hodgkin's lymphoma.
  • Opportunistic infections: Is defined as an infection that occurs due to an organism that does not usually cause disease but becomes pathogenic under certain conditions
  • Oral thrush: Candida fungal infection of the mouth.
  • Paraneoplastic syndromes:
  • Philadelphia-negative chronic myeloid leukemia: A form of leukemia.
  • Pneumococcus: Bacteria causing ear infections, pneumococcal pneumonia, and pneumococcal meningitis.
  • Pneumonia: Infection of the lung by bacteria, viruses or fungus.
  • Pontiac fever: Mild form of legionellosis usually in healthy people.
  • Prednisolone -- Teratogenic Agent: There is evidence to indicate that exposure to Prednisolone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Primary Immune Deficiency: Various types of immune deficiencies; usually genetic.
  • Pyelonephritis: Kidney and ureter infection usually bacterial from the bladder.
  • Q fever: A disease caused by Coxiella burnetti which causes fever, headache and muscle pain.
  • Respiratory syncytial virus: Viral respiratory infection serious in young infants.
  • Roifman syndrome: A rare syndrome characterized by abnormal bone growth, immune deficiency and an eye disorder.
  • SCID: Major failure of the immune system, usually genetic.
  • Salmonella food poisoning: Common type of food poisoning.
  • Scleroderma: A rare, progressive connective tissue disorder involving thickening and hardening of the skin and connective tissue. There are a number of forms of scleroderma with some forms being systemic (involving internal organs).
  • Selective IgA Deficiency: Immune deficiency from lacking immunoglobulin A (IgA) antibodies.
  • Semmerkrot-Haraldsson-Weenaes syndrome: A very rare syndrome characterized mainly by anemia, missing thumb, an immune disorder and an excessive buildup of fluid in the fetus or newborn (hydrops fetalis).
  • Septicemia: A systemic inflammatory response to an infection.
  • Severe congenital neutropenia: A rare inherited blood disorder involving a lack of neutrophils which are a type of white blood cell needed to fight bacterial infections.
  • Sickle Cell Anemia: Sickle cell anemia is an inherited blood disorder characterized by red blood cells which are crescent-shaped rather than the normal doughnut shape. These abnormally shaped red blood cells are unable to function normally and tend to undergo premature destruction which leads to anemia. If the genetic defect which causes the condition is inherited from both parents the condition can be quite severe whereas if it is inherited from only one parent, often there are no symptoms. The abnormally shaped red blood cells can cause problems when they clump together and block blood vessels.
  • Spondylometaphyseal dysplasia with combined immunodeficiency: A rare syndrome characterized by skeletal abnormalities as well as a poor immune system.
  • Staphylococcal infection: Any infection caused by the bacteria staphylococcal
  • Streptococcal Infections: Various "strep" bacterial infections.
  • T-cell acute lymphoblastic leukemia: Cancer of particular white blood cells called T-cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets.
  • Tacrolimus -- Teratogenic Agent: There is evidence to indicate that exposure to Tacrolimus during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Toxoplasmosis: Infection often caught from cats and their feces.
  • Type 1 diabetes: Severe insulin-treated diabetes typically occurring in young people.
  • Vaginal candidiasis: Fungal infection of the vagina, sometimes called thrush.
  • Velocardiofacial syndrome: A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 different symptoms that can occur and the severity of the condition is also highly variable depending on the nature and severity of the symptoms that are present.
  • Vibrio vulnificus: Bacteria commonly infecting oysters and seafood.
  • Visceral leishmaniasis: A condition which is characterized by an infection of the viscera by leishmaniasis
  • Wiskott-Aldrich Syndrome: An inherited immune system disorder that affects only males and is characterized by recurring infections, eczema and reduced level of blood platelets (thrombocytopenia).
  • X-Linked Agammaglobulinemia: Immune deficiency from lack of antibodies.
  • X-linked lymphoproliferative syndrome: A rare inherited immunodeficiency disorder where the body's immune systm is unable to respond appropriately to certain viral infections (Epstein Barr virus).

 

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