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Adenosine deaminase deficiency in adults
H Ozsahin, FX Arredondo-Vega, I Santisteban, H Fuhrer, P Tuchschmid, W Jochum, A Aguzzi, HM Lederman, A Fleischman, JA Winkelstein, RA Seger and MS Hershfield
Division of Immunology/Hematology, University Children's Hospital, Zurich,
Switzerland.
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.
Volume 89,
Issue 8,
pp. 2849-2855,
04/15/1997
Copyright © 1997 by The American Society of Hematology
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