Morbidity in an adenosine deaminase-deficient patient during 27 years of enzyme replacement therapy.
Clin Immunol
; 211: 108321, 2020 02.
Article
em En
| MEDLINE
| ID: mdl-31812707
ABSTRACT
INTRODUCTION:
Adenosine deaminase (ADA) deficiency causes severe immunodeficiency that is lethal in infancy. Enzyme replacement therapy (ERT) can improve the metabolic, immune and non-immune abnormalities in patients prior to transplantation, however, its benefits over extended periods are not well characterized. We describe a 28-year-old female who received ERT for 27 years. She suffered from EBV negative B cell lymphoma of the hip at 14 years of age and Guillian-Barre Syndrome 2 years later. At 22 years of age, she experienced a gastrointestinal infection with Mycobacterium genavense. At 26 years of age, lymphoma reoccurred with multiple liver lesions followed by Mycobacterium genavense infection with dissemination to the brain. Throughout this period, ADA activity in the plasma was within the therapeutic range. Repeated evaluations demonstrated very low lymphocyte counts and impaired T cell function.CONCLUSIONS:
ERT might be insufficient to maintain normal immunity over extended periods in some ADA-deficient patients.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Adenosina Desaminase
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Imunodeficiência Combinada Severa
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Agamaglobulinemia
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Terapia de Reposição de Enzimas
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Clin Immunol
Ano de publicação:
2020
Tipo de documento:
Article