Whitmore, KV;
Gaspar, HB;
(2016)
Adenosine Deaminase Deficiency - More Than Just an Immunodeficiency.
Frontiers in Immunology
, 7
(ARTN 314)
10.3389/fimmu.2016.00314.
Preview |
Text
Gaspar_fimmu-07-00314_adenosine_1.pdf - Published Version Download (1MB) | Preview |
Abstract
Adenosine deaminase (ADA) deficiency is best known as a form of severe combined immunodeficiency (SCID) that results from mutations in the gene encoding ADA. Affected patients present with clinical and immunological manifestations typical of a SCID. Therapies are currently available that can target these immunological disturbances and treated patients show varying degrees of clinical improvement. However, there is now a growing body of evidence that deficiency of ADA has significant impact on non-immunological organ systems. This review will outline the impact of ADA deficiency on various organ systems, starting with the well-understood immunological abnormalities. We will discuss possible pathogenic mechanisms and also highlight ways in which current treatments could be improved. In doing so, we aim to present ADA deficiency as more than an immunodeficiency and suggest that it should be recognized as a systemic metabolic disorder that affects multiple organ systems. Only by fully understanding ADA deficiency and its manifestations in all organ systems can we aim to deliver therapies that will correct all the clinical consequences.
| Type: | Article |
|---|---|
| Title: | Adenosine Deaminase Deficiency - More Than Just an Immunodeficiency |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3389/fimmu.2016.00314 |
| Publisher version: | http://dx.doi.org/10.3389/fimmu.2016.00314 |
| Language: | English |
| Additional information: | Copyright: © 2016 Whitmore and Gaspar. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Immunology, adenosine deaminase, immunodeficiency, SCID, neurological abnormalities, enzyme replacement therapy, hematopoietic stem cell transplantation, gene therapy, BONE-MARROW-TRANSPLANTATION, STEM-CELL TRANSPLANTATION, S-ADENOSYLHOMOCYSTEINE HYDROLASE, PULMONARY ALVEOLAR PROTEINOSIS, IMMUNE-DEFICIENCY, BEHAVIORAL ABNORMALITIES, SENSORINEURAL DEAFNESS, V(D)J RECOMBINATION, ADA DEFICIENCY, SCID PATIENTS |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1514700 |
Archive Staff Only
 |
View Item |
