Adenosine deaminase deficiency in adults

Hulya Ozsahin, Francisco X. Arredondo-Vega, Ines Santisteban, Hanspeter Fuhrer, Peter Tuchschmid, Wolfram Jochum, Adriano Aguzzi, Howard M Lederman, Amy Fleischman, Jerry A. Winkelstein, Reinhard A. Seger, Michael S. Hershfield

Research output: Contribution to journalArticle

Abstract

Adenosine deaminase (ADA) deficiency typically causes severe combined immunodeficiency (SCID) in infants. We report metabolic, immunologic, end 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.

Original languageEnglish (US)
Pages (from-to)2849-2855
Number of pages7
JournalBlood
Volume89
Issue number8
StatePublished - Apr 15 1997
Externally publishedYes

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Adenosine Deaminase
Severe Combined Immunodeficiency
Lymphopenia
Exons
Nucleotides
Leukoencephalopathies
Missense Mutation
Infection
Severe combined immunodeficiency due to adenosine deaminase deficiency
Autoimmunity
Hepatitis
Tuberculosis
Erythrocytes
Genotype
Phenotype
Mutation

ASJC Scopus subject areas

  • Hematology

Cite this

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.

Adenosine deaminase deficiency in adults. / Ozsahin, Hulya; Arredondo-Vega, Francisco X.; Santisteban, Ines; Fuhrer, Hanspeter; Tuchschmid, Peter; Jochum, Wolfram; Aguzzi, Adriano; Lederman, Howard M; Fleischman, Amy; Winkelstein, Jerry A.; Seger, Reinhard A.; Hershfield, Michael S.

In: Blood, Vol. 89, No. 8, 15.04.1997, p. 2849-2855.

Research output: Contribution to journalArticle

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 1997, 'Adenosine deaminase deficiency in adults', Blood, vol. 89, no. 8, pp. 2849-2855.
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):2849-2855.
Ozsahin, Hulya ; Arredondo-Vega, Francisco X. ; Santisteban, Ines ; Fuhrer, Hanspeter ; Tuchschmid, Peter ; Jochum, Wolfram ; Aguzzi, Adriano ; Lederman, Howard M ; Fleischman, Amy ; Winkelstein, Jerry A. ; Seger, Reinhard A. ; Hershfield, Michael S. / Adenosine deaminase deficiency in adults. In: Blood. 1997 ; Vol. 89, No. 8. pp. 2849-2855.
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