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 ?
Another inherited immune disorder, ADA deficiency has been successfully treated with a retroviral vector that delivers a functional copy of the ADA gene.
(1993) reported that direct relationship between the CD26 and ADA asserted to these interactions may provide a clue for pathophysiology of severe combined immune deficiency related to ADA deficiency. Lymphocyte ADA activity was found to be correlated with the number of lymphocytes in rats infected with leptospirosis (Tonin et al., 2012).
* The Americans with Disabilities Act (ADA) and Fair Housing Accessibility: Support legislation that provides a business owner with 120 days to cure an alleged ADA deficiency prior to the initiation of a lawsuit.
ADA deficiency may result in a fatal severe combined immunodeficiency disease (SCID) [11].
How I treat ADA deficiency. Blood 2009; 22:3524-3532.
Results of the second analysis showed deterioration in the lymphocyte count as compared to the first one, which provided the first clue to possible ADA deficiency. Because of limitations of diagnostic modalities in Pakistan, blood specimen of patient was sent to Duke University Medical Center, North Carolina, where ADA (adenosine deaminase), PNP (purine nucleoside phosphorylase), dAXP (total deoxyadenosine nucleotide) and %dAXP (dAXP/AXP+dAXP) levels were tested.
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).
Children with infant-onset ADA deficiency often have characteristic skeletal abnormalities of the ribs and hips readily apparent on radiograph.
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
As with many other genetic disorders, the root of ADA deficiency lies in the body's inability to produce a key chemical because of a defective gene coding.
In all three efforts to cure ADA deficiency, the children treated now seem healthy.

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