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Adenosine deaminase deficiency in adults.

Publication ,  Journal Article
Ozsahin, H; Arredondo-Vega, FX; Santisteban, I; Fuhrer, H; Tuchschmid, P; Jochum, W; Aguzzi, A; Lederman, HM; Fleischman, A; Winkelstein, JA ...
Published in: Blood
April 15, 1997

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.

Duke Scholars

Published In

Blood

ISSN

0006-4971

Publication Date

April 15, 1997

Volume

89

Issue

8

Start / End Page

2849 / 2855

Location

United States

Related Subject Headings

  • Severe Combined Immunodeficiency
  • Point Mutation
  • Phenotype
  • Pedigree
  • Male
  • Infections
  • Immunology
  • Humans
  • Heterozygote
  • Female
 

Citation

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Ozsahin, H., Arredondo-Vega, F. X., Santisteban, I., Fuhrer, H., Tuchschmid, P., Jochum, W., … Hershfield, M. S. (1997). Adenosine deaminase deficiency in adults. Blood, 89(8), 2849–2855.
Ozsahin, H., F. X. Arredondo-Vega, I. Santisteban, H. Fuhrer, P. Tuchschmid, W. Jochum, A. Aguzzi, et al. “Adenosine deaminase deficiency in adults.Blood 89, no. 8 (April 15, 1997): 2849–55.
Ozsahin H, Arredondo-Vega FX, Santisteban I, Fuhrer H, Tuchschmid P, Jochum W, et al. Adenosine deaminase deficiency in adults. Blood. 1997 Apr 15;89(8):2849–55.
Ozsahin, H., et al. “Adenosine deaminase deficiency in adults.Blood, vol. 89, no. 8, Apr. 1997, pp. 2849–55.
Ozsahin H, Arredondo-Vega FX, Santisteban I, Fuhrer H, Tuchschmid P, Jochum W, Aguzzi A, Lederman HM, Fleischman A, Winkelstein JA, Seger RA, Hershfield MS. Adenosine deaminase deficiency in adults. Blood. 1997 Apr 15;89(8):2849–2855.

Published In

Blood

ISSN

0006-4971

Publication Date

April 15, 1997

Volume

89

Issue

8

Start / End Page

2849 / 2855

Location

United States

Related Subject Headings

  • Severe Combined Immunodeficiency
  • Point Mutation
  • Phenotype
  • Pedigree
  • Male
  • Infections
  • Immunology
  • Humans
  • Heterozygote
  • Female