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Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-1850

Ozsahin, H; Arredondo-Vega, F X; Santisteban, I; Fuhrer, H; Tuchschmid, P; Jochum, W; Aguzzi, A; Lederman, H M; Fleischman, A; Winkelstein, J A; Seger, R A; Hershfield, M S (1997). Adenosine deaminase deficiency in adults. Blood, 89(8):2849-2855.

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Abstract

Adenosine deaminase (ADA) deficiency typically causes severe combined immunodeficiency (SCID) in infants. We report metabolic, immunologic, and genetic findings in two ADA-deficient adults with distinct phenotypes. Patient no. 1 (39 years of age) had combined immunodeficiency. She had frequent infections, lymphopenia, and recurrent hepatitis as a child but did relatively well in her second and third decades. Then she developed chronic sinopulmonary infections, including tuberculosis, and hepatobiliary disease; she died of viral leukoencephalopathy at 40 years of age. Patient no. 2, a healthy 28-year-old man with normal immune function, was identified after his niece died of SCID. Both patients lacked erythrocyte ADA activity but had only modestly elevated deoxyadenosine nucleotides. Both were heteroallelic for missense mutations: patient no. 1, G216R and P126Q (novel); patient no. 2, R101Q and A215T. Three of these mutations eliminated ADA activity, but A215T reduced activity by only 85%. Owing to a single nucleotide change in the middle of exon 7, A215T also appeared to induce exon 7 skipping. ADA deficiency is treatable and should be considered in older patients with unexplained lymphopenia and immune deficiency, who may also manifest autoimmunity or unexplained hepatobiliary disease. Metabolic status and genotype may help in assessing prognosis of more mildly affected patients.

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Institute of Neuropathology
DDC:570 Life sciences; biology
610 Medicine & health
Language:English
Date:15 April 1997
Deposited On:11 Feb 2008 12:26
Last Modified:27 Nov 2013 19:39
Publisher:American Society of Hematology
ISSN:0006-4971
Additional Information:This research was originally published in Blood, 1997; 89(8):2849-2855. Copyright by the American Society of Hematology
Related URLs:http://www.bloodjournal.org/cgi/content/full/89/8/2849
PubMed ID:9108404
Citations:Web of Science®. Times Cited: 68
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