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Chediak higashi syndrome, Phenylketonuria, Dentinogenesis Imperfecta
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Hyper-IgE syndrome Presented by Jintana Chataroopwijit, MD. October28, 2016
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DiGeorge Syndrome (DGS) is a primary immunodeficiency disease associated with susceptibility to infections due to poor T cell production and function. While DGS is a lifelong condition, it mostly affects infants and children. Depending on the severity of the syndrome, recurrent infections tend to decrease in late childhood and adulthood. Still, approximately one-third of affected adults will have mild recurrent infections. Children with DGS differ in the organs and tissues affected, as well as in the severity of the disease.
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Hyper IgE syndrome Presented by Piyawadee Lertchanaruengrith, MD.
Hyper IgE syndrome
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Hyper-IgE syndrome Presented by Jintana Chataroopwijit, MD. October28, 2016
Hyper-IgE syndrome
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Chulalongkorn Allergy and Clinical Immunology Research Group
DiGeorge Syndrome (DGS) is a primary immunodeficiency disease associated with susceptibility to infections due to poor T cell production and function. While DGS is a lifelong condition, it mostly affects infants and children. Depending on the severity of the syndrome, recurrent infections tend to decrease in late childhood and adulthood. Still, approximately one-third of affected adults will have mild recurrent infections. Children with DGS differ in the organs and tissues affected, as well as in the severity of the disease.
DiGeorge Syndrome
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Hyper IgE syndrome Presented by Piyawadee Lertchanaruengrith, MD.
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A decrease in red blood cells when the body can't absorb enough red blood cells.It is an organ specific autoimmune diseases in which the body’s immune system attacks the lining of the stomach. It was considered as a deadly disease due to the lack of available treatment. Pernicious anemia is most common in caucasian persons of north European ancestry than in other racial groups.
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The most common lysosomal storage disease, Incidence: approximately 1 in 40,000 for non-Jewish populations Caused by a deficiency of the enzyme glucocerebrosidase The glycolipid glucocerebroside accumulates in lysosomes of macrophages Lipid-filled Gaucher cells displace normal cells in Bone marrow Spleen Liver Lungs CNS Skeletal disease is slow to respond to ERT and widely varies. Some patients describe symptomatic improvement within the first year of treatment, although a much longer period of ERT is required to achieve a radiologic response.
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My son had Wiskott Aldrich Syndrome (WAS). He had a bone marrow transplant in August 2006. His WAS is healed. This presentation was designed by some grad students. Some of the content is from my blog and it pictures my son, David. http://www.davidmcnally.blogspot.com
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