Adenosine deaminase deficiency with late onset of recurrent infections: Response to treatment with polyethylene glycol-modified adenosine deaminase

doi:10.1016/S0022-3476(88)80271-3

The Journal of Pediatrics

Volume 113, Issue 2, August 1988, Pages 312-317

https://doi.org/10.1016/S0022-3476(88)80271-3 Get rights and content

We report a 5-year-old girl with adenosine deaminase (ADA) deficiency who was asymptomatic during the first years of life. At 3 years of age, she developed chronic and recurrent sinopulmonary infections, and at 4 1/2 years of age the had one major infection with Streptococcus pneumoniae (bacteremia and septic arthritis of the hip). Immunologic evaluation at 5 years of age revealed persistent lymphopenia, decreased helper-suppressor T cell ratios, and low proliferative responses to mitogens. The IgG, IgM, and IgA levels were normal; the IgG2 level was low normal or below normal. The patient had specific antibodies against toxoids and viral antigens but failed to produce antibodies against Haemophilus influenzae type b and pneumococcal polysaccharides. Although no symptoms of allergy were present, she had persistent eosinophilia and elevated IgE levels. The patient had 0.6% of normal ADA activity in erythrocytes and approximately 1% of normal ADA activity in peripheral blood mononuclear cells. Beginning at 6 years of age, she was treated with weekly injections of polyethylene glycol-modified bovine ADA. This treatment was well tolerated and effectively reversed the biochemical consequence of ADA deficiency. Concomitantly, she improved clinically and her T lymphocyte numbers and blastogenic responses to mitogens in vitro became normal. The late onset of clinical symptoms and relatively benign clinical course in this patient emphasize the need to consider ADA deficiency in a broad spectrum of immunodeficient children.

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^†: Supported in part by grants (Nos. RR00080, RR00036, DK20902, and CA38353) from the National Institutes of Health, U.S. Public Health Service.

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Original articleAdenosine deaminase deficiency with late onset of recurrent infections: Response to treatment with polyethylene glycol-modified adenosine deaminase†

Lancet

J Biol Chem

Biochem Biophys Acta

Clin Chim Acta

Lancet

Genetic deficiencies of adenosine deaminase and purine nucleoside phosphorylase: overview, genetic heterogeneity and therapy

Birth Defects

Metabolic aspects of immunodeficiency disease

Semin Hematol

Dipyridamole and intravenous deoxycytidine therapy in a patient with adenosine deaminase deficiency

Birth Defects

Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase

N Engl J Med

Adenosineresistant Chinese hamster fibroblast variants with hyperactive adenosine-deaminase: an analysis of the protection against exogenous adenosine afforded by increased activity of the deamination pathway

J Cell Physiol

In vivo inactivation of erythrocyte S-adenosylhomocysteine hydrolase by 2′-deoxyadenosine in an adenosine deaminase deficient patient

J Clin Invest

Characterization of the residual adenosine deaminating activity in the spleen of a patient with combined immunodeficiency disease and adenosine deaminase deficiency

Proc Natl Acad Sci USA

Original article
Adenosine deaminase deficiency with late onset of recurrent infections: Response to treatment with polyethylene glycol-modified adenosine deaminase†