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 ?
The clinical course of inherited ADA-SCID ranges from the rapidly fatal to the minimally dysfunctional immune system of patients presenting 'partial' ADA deficiency (7).
ADA deficiency leads to impaired lymphoid development and severe combined immunodeficiency disease (SCID).
1990 First gene therapy takes place, on a four-year-old girl with an immune system disorder called ADA deficiency
Jordan was born with ADA deficiency, a rare condition that occurs about once in 1 million births.
In all three efforts to cure ADA deficiency, the children treated now seem healthy.
To measure the loss in value of an ADA deficiency requiring an addition, for example, assume that in an inspection of the subject property the appraiser observes the lack of a curb cut from the parking lot to the entrance of the building.
That ruled out beta-thalassemia, but ADA deficiency fit the description perfectly.
ADA deficiency is a form of the disease suffered by David, the "boy in the bubble," who died in 1984 in Houston at age 12.
In urine, deoxyadenosine generally is present in higher concentrations than adenosine in patients with ADA deficiency.
Carson used his knowledge of ADA deficiency to search for a compound that would tell the out-of-control white cells to self-destruct.
Michael Blaese provided the first public progress report for a four-year-old girl with an inherited immune disrder called ADA deficiency (SN: 9/22/90, p.
Matters were complicated by the FDA's licensing last month of the first drug treatment for ADA deficiency.

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