Morbidity in an adenosine deaminase-deficient patient during 27 years of enzyme replacement therapy.

Adenosine Deaminase / deficiency Adult Agammaglobulinemia / drug therapy Enzyme Replacement Therapy Female Humans Morbidity Severe Combined Immunodeficiency / drug therapy
Adenosine deaminase deficiency Enzyme replacement therapy Gene therapy Long-term Lymphoma Mycobacterium genavense PEG Severe combined immunodeficiency

Journal

Clinical immunology (Orlando, Fla.)
ISSN: 1521-7035
Titre abrégé: Clin Immunol
Pays: United States
ID NLM: 100883537

Informations de publication

Date de publication:
02 2020
Historique:
received: 02 10 2019
revised: 21 11 2019
accepted: 03 12 2019
pubmed: 10 12 2019
medline: 5 8 2020
entrez: 9 12 2019
Statut: ppublish

Résumé

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. ERT might be insufficient to maintain normal immunity over extended periods in some ADA-deficient patients.

Identifiants

DOI: 10.1016/j.clim.2019.108321 PMID: 31812707
pubmed: 31812707
pii: S1521-6616(19)30535-2
doi: 10.1016/j.clim.2019.108321
pii:
doi:

Substances chimiques

Adenosine Deaminase EC 3.5.4.4
pegademase bovine HW3H7D91F6

Types de publication

Case Reports Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

108321

Informations de copyright

Copyright © 2019 Elsevier Inc. All rights reserved.

Auteurs

Eyal Grunebaum (E)

Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada. Electronic address: eyal.grunebaum@sickkids.ca.

Brenda Reid (B)

Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children, Toronto, ON, Canada.

Ahmed Naqvi (A)

University of Toronto, Toronto, ON, Canada; Division of Hematology and Oncology, Hospital for Sick Children, Toronto, Ontario, Canada.

Michael S Hershfield (MS)

Division of Medicine and Biochemistry, Duke University Medical Center, Durham, NC, USA.

Vy Hong-Diep Kim (VH)

Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada.

Matthew P Muller (MP)

Division of Infectious Diseases, St. Michael's Hospital, Toronto, ON, Canada.

Lisa K Hicks (LK)

Division of Hematology, St. Michael's Hospital, Toronto, ON, Canada.

Erika Lee (E)

University of Toronto, Toronto, ON, Canada; Division of Allergy and Immunology, St. Michael's Hospital, Toronto, ON, Canada.

Stephen Betschel (S)

University of Toronto, Toronto, ON, Canada; Division of Allergy and Immunology, St. Michael's Hospital, Toronto, ON, Canada.

Chaim M Roifman (CM)

Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada. Electronic address: chaim.roifman@sickkids.ca.

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Classifications MeSH

questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Aminohydrolases › Nucleoside deaminases › Adenosine deaminase › Morbidity in an adenosine deaminase-deficient...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Morbidity in an adenosine deaminase-deficient...
questionsmedicales.fr › Maladies du système immunitaire › Déficits immunitaires › Agammaglobulinémie › Morbidity in an adenosine deaminase-deficient...
questionsmedicales.fr › Thérapeutique › Traitement médicamenteux › Thérapie enzymatique › Thérapie enzymatique substitutive › Morbidity in an adenosine deaminase-deficient...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Morbidity in an adenosine deaminase-deficient...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Registre civil › Morbidité › Morbidity in an adenosine deaminase-deficient...
questionsmedicales.fr › Maladies du système immunitaire › Déficits immunitaires › Maladies d'immunodéficience primaire › Immunodéficience combinée grave › Morbidity in an adenosine deaminase-deficient...