نتایج جستجو برای: severe combined immune deficiency
تعداد نتایج: 1039889 فیلتر نتایج به سال:
We studied an Arab family in which two infants died of severe combined immunodeficiency caused by adenosine deaminase (ADA) deficiency. One infant had purine nucleoside phosphorylase (PNP) activity in the leucocytes only half that of normal. Four other infant siblings had previously died from infections before the age of 2 months. Hyperpigmented skin lesions preceded death in three cases. The h...
Major histocompatibility complex (MHC) class II deficiency (bare lymphocyte syndrome) is a rare inborn error of the immune system characterized by impaired antigen presentation and combined immunodeficiency. It causes severe and unremitting infections leading to progressive liver and lung dysfunctions and death during childhood. As in other combined immunodeficiency disorders, bone marrow trans...
BACKGROUND While primary immunodeficiencies (PID has been recognized in the west for decades, recognition has been delayed in the third world. This study attempts to detail the spectrum of PID, the therapy provided, and constraints in the diagnosis and treatment in a middle income country such as Sri Lanka. METHODS Nine hundred and forty two patients with recurrent infections and features sug...
Adenosine deaminase deficiency accounts for approximately 15-20% of severe combined immunodeficiency in humans. The gene for adenosine deaminase is located on chromosome 20q12-q13.11 and codes for an aminohydrolase that catalyzes the deamination of adenosine and deoxyadenosine to inosine and deoxyinosine, respectively. Absence of the enzyme causes a build-up of the substrates in addition to exc...
Severe combined immunodeficiency is a large clinically heterogeneous group of disorders caused by a defect in the development of humoral or cellular immune responses. At least 13 genes are known to be involved in the pathophysiology of the disease and the mutation spectrum in SCID has been well documented. Mutations of the recombination-activating genes RAG 1 and RAG 2 are associated with a ran...
Gene therapy has changed dramatically in the 28 years since the first human gene transfer experiment in 1989. Alipogene tiparvovec, GlyberaR R ©, a recombinant adenoassociated virus (rAAV) product for lipoprotein lipase deficiency, and Strimvelis R ©, a lentivirus vector for severe combined immune deficiency are approved in Europe. An rAAV2 product for a congenital form of blindness is currentl...
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