adenosine deaminase deficiency


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adenosine deaminase deficiency

A uniformly fatal autosomal dominant [MIM 102700] disease, which consitutes 40% of patients with sever combined immunodeficiency disease.
 
Clinical findings
Cellular immune dysfunction, oral candidiasis, intractable diarrhoea, failure to thrive, severe diaper rash, pseudoachondrodysplasia, death by age 2.
 
Lab
Lymphopaenia < 0.5 x 109/L (US, < 500 mm3), especially T cells; eosinophilia; increased adenosine and deoxyadenosine in serum and urine.
 
Management
Gene therapy; rarely, bone marrow transplantation.

adenosine deaminase deficiency

ADA deficiency A uniformly fatal AD disease, which consitutes 40% of Pts with SCID Clinical Cellular immune dysfunction, oral candidiasis, intractable diarrhea, FTT, severe diaper rash, pseudoachondrodysplasia, death by age 2 Lab ↓ Lymphocytes < 0.5 x 109/L–US, < 500 mm3, especially T cells; eosinophilia; ↑ adenosine and deoxyadenosine in serum and urine Treatment Gene therapy; rarely BMT. See Cartilage-hair syndrome.
References in periodicals archive ?
Orphan Europe works with the following diseases: acute porphyria, congenital sucrase-isomaltase deficiency, homocystinuria, hyperammonaemia due to NAGS deficiency, nephropathic cystinosis, patent ductus arteriosus, severe combined immunodeficiency - adenosine deaminase deficiency, vitamin E deficiency in chronic cholestasis and Wilson's disease.
And scientists at the University of California are reporting preliminary clinical benefits in gene therapy for adenosine deaminase deficiency, an immune deficiency disorder related to "bubble boy disease.
Gene therapy was first conducted in Japan in 1995 at Hokkaido University on a boy suffering from adenosine deaminase deficiency.
The project must clear other regulatory hurdles, but federal scientists say they may begin treating three or four children with adenosine deaminase deficiency as early as this fall.
Absence of orotic aciduria in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency.
In Japan, Hokkaido University and Kumamoto University have so far received approval to conduct gene therapy on a patient with adenosine deaminase deficiency, which is thought to lead to immunodeficiency, and an HIV-infected patient, respectively.
Rapid advances in laboratory research during the last few months have made the rare immune system disorder called adenosine deaminase deficiency likely to be the target of the first U.
A further setback was the reports of leukaemia following use of retroviral vectors in successful gene therapy for adenosine deaminase deficiency.
In this clinical trial, Anderson's team successfully treated 4-year-old Ashanthi DeSilva for a rare blood disorder known as adenosine deaminase deficiency, or ADA deficiency, a disease which renders the body unable to fight even mild forms of infection.
The Hokkaido University Hospital will conduct research into adenosine deaminase deficiency, while Tohoku University Hospital will engage in studies of X-Linked Severe Combined Immunodeficiency, the officials said.
The other research proposal involves the long-awaited gene-therapy trial for up to 10 children with an inherited immune disorder called adenosine deaminase deficiency (SN: 6/16/90, p.
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