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Created with Fabric.js 1.4.5 Adenosine Deaminase Deficiency(ADA Deficiency) - ADA Deficiency is an inheriteddisorder through an autosomal recessive gene that damages the immune system and causes immunodeficiency (2)- It is present in the first fewmonths of a newborn (2) Symp toms: - Reaccuring infections- Decrease in lymphocytes (white blood cells); lymphocytes help to fight infection- Failure to gain weight or grow properly- Chronic diarrhea- Red and swollen, itchy skin- Rib abnormalities- Liver abnormalities- Neurological abnormalities, including hearing loss- Pneumonia (3) normal carrier carrier affected Autosomal Recessive Inheritance Chromosome with defective gene GLOSSARY Due to ADA deficiency, severe combined immunodeficiency disease (SCID) usually resultsby lymphopenia and low immunoglobulin levels. Both males and females can be affectedby this disease and 10-15% of all SCID cases are cause by ADA deficiency. (1) What is ADA Deficiency SCID: a result from a very low functioning immune system that is considered noteven there (1)Lymphopenia: the abnormality of havinga very low number of white blood cells inthe blood (1)Immunoglobulin: proteins present in cellsof the immune system that work as antibodies (3)ADA Gene: a gene that instructs theproduction of the enzyme, adenosine deaminase (2)Adenosine Deaminase: an enzyme thatcatalyzes adenosine to inosine and ammoniaLymphocytes: are the white blood cells thatprotect the body from infections, bacteria, andviruses by creating immune proteins and attacking the infected cells (2)Deoxyadenosine: an unwanted toxin that kills immune cells that fight infection (2) Chromosome with normal gene Adenosine Deaminase Deficiency is caused by a mutation in the ADA gene and because this gene assists in the production of the enzyme, adenosine deaminase, which is found all over the human body and is most active in white blood cells; the bodywould not be able to fight off most infections as enduringas opposed to someone without ADA deficiency. (2) Less than 1 in 100,000 births worldwide have this disease occur Cause of ADA Deficiency Adenosine Deaminase Deficiency Support Groups Prognosis There are many organizations that support this rare disease. One includes, The National Organization for Rare Disorders (NORD). This organizarion adresses diseases that are not very common. (4)NORD assists those who serve the particular patients (such as hospitals). This organization, and ones like it are non-profit and are commited to treating and finding cures for the disease through education, service, and research. (4) Mom & Dad Carrier (no Symptoms) Carrier (no Symptoms) Treatments How ADA Deficiency is Diagnosed Although there is no real cure to this disease, it is able to be treated by improving the immune system and restoring ADA levels in the body. Specific treatments include:- Bone marrow transplants to provide healthier immune cells (bone marrow must be a biological match)- The transferring of red blood cells from a healthy donor- `Enzyme Replacement Therapy`-- where the enzyme, adenosine deaminase is continuously added- "Gene Therapy"-- the insertion into immune cells of DNA with normal ADA genes (2) ADA Deficiency can be identified during pregnancy through a tissue sample from where the baby develops. The blood sample is taken from the umbilical cord to observe the enzyme levels. A sample of blood can also be taken after the baby is born to check it`s ADA. (1) Interesting Fact: How Common is ADA Deficiency? ADA deficiency is not a very common disease because both parents need to carry the recessive allele and pass it on to their child in order for them to inherit it. (2)- Chromosome 20 becomes mutated whenthis occurs - The body is then unable to break down deoxyadenosine (2)It can affect both males and femalesand is not more prone to a certain race. (1) In 1990, doctors performed the first successful gene therapy on Ashanti de Silva, a young girl with ADA deficiency(2) t t Taken from "Genetic Science Learning Centre" (2) Created in Meta-Chart "" By Suzanne Abu- Jazar- extra images were kindly provided by
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