Glossary for Immune deficiency

Medical terms related to Immune deficiency or mentioned in this section include:

• $22q11.2 deletion syndrome$: 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.
• 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.
• Acute kidney failure: The sudden and acute loss of kidney function
• Acute lymphoblastic leukemia: A malignant disease that starts suddenly and progresses quickly. It is characterized by a high number of immature cells in the organs, bone marrow and blood. Symptoms include fever, pallor, anorexia, fatigue, anemia, hemorrhage, bone pain, splenomegaly and frequent infections. Also called acute lymphocytic leukemia.
• 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.
• 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.
• Chediak-Higashi Syndrome: An inherited immune system disorder resulting in frequent infections, lack of skin and eye pigmentation, neurological diseases and early death.
• 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.
• 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
• Hepatic failure: loss of normal liver function and metabolism of products by the liver
• Hodgkin's Disease: A form of cancer that affects the lymphatic system.
• Hyalinosis, infantile systemic: A rare genetic disorder involving abnormal deposits of hyaline throughout various body tissues. Manifestations include progressive joint contractures, skin abnormalities and pain.
• 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
• Immune deficiency conditions: Any of various diseases that suppress the immune system.
• Immune deficiency in children:
• Immune symptoms: Symptoms affecting 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.
• 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.
• Kostmann disease: A rare inherited blood disorder involving a lack of neutrophils which are a type of white blood cell needed to fight bacterial infections.
• 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
• 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.
• 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.
• 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
• 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.
• 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.
• Multiple myeloma: A rare malignant cancer that occurs in the bone marrow. More common in skull, spine, rib cage, pelvis and legs.
• 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.
• Neuropathy, Hereditary Sensory, Type IV: A rare disorder characterized mainly by insensitivity to pain and inability to sweat.
• Non-Hodgkin's lymphoma: A condition which is any neoplastic disorder of the lymphoid tissue
• 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.
• Paraneoplastic syndromes:
• Philadelphia-negative chronic myeloid leukemia: A form of leukemia.
• Poor healing: When a wound takes a prolonged time to heal
• 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.
• Roifman syndrome: A rare syndrome characterized by abnormal bone growth, immune deficiency and an eye disorder.
• 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).
• 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).
• 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.
• 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.
• Type 1 diabetes: Severe insulin-treated diabetes typically occurring in young people.
• 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.
• Visceral leishmaniasis: A tropical disease caused by a protozoan organism and transmitted to humans through sand fly bites. Also called Assam fever, black fever, dumdum fever, ponos or kala-azar.
• 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 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).

 » Next page: Disease Center Information

Rate This Website

What do you think about the features of this website? Take our user survey and have your say:

Website User Survey

Medical Tools & Articles:

Next articles:

• Disease Center Information

Tools & Services:

• Bookmark this page
• Symptom Search
• Symptom Checker
• Medical Dictionary
• Give your feedback

Medical Articles:

• Disease & Treatments Search
• Misdiagnosis Center
• Full list of interesting articles

Forums & Message Boards

• Ask or answer a question at the Boards:
• I cannot get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for my condition?
• See all the Boards.

Enter your search terms Submit search form
Search The Web Search wrongdiagnosis.com

Common Health Mistakes

Symptom
Checker

Search Specialists by State and City