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Neutropenia in patients with adenosine deaminase deficiency
Vy HD Kim*, Chaim R Roifman and Eyal Grunebaum
*Corresponding author: Vy HD Kim vy.kim@sickkids.ca
Author Affiliations
Division of Clinical Immunology and Allergy, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
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Allergy, Asthma &Clinical Immunology 2014, 10(Suppl 1):A41 doi:10.1186/1710-1492-10-S1-A41


The electronic version of this article is the complete one and can be found online at:http://www.aacijournal.com/content/10/S1/A41

Published:
3 March 2014
© 2014 Kim et al; licensee BioMed Central Ltd. 
This is an Open Access article distributed under the terms of the Creative Commons Attribution License(http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
Background
Adenosine deaminase (ADA) deficiency is a disorderwhere the accumulation of purine metabolites, which are particularly toxic to lymphocytes, can lead to severe, life threatening infections. In addition, ADA deficiency also affects other tissues. Few reports describe the presence of neutropenia in these patients, primarily in older patients after hematopoietic stem cell transplantation (HSCT) or gene therapy. We hypothesized that abnormal purinemetabolism could also affect granulopoiesis.
Objective
The objective of the study was to assess the frequency and nature of neutropenia in patients with ADA deficiency in the first 180 days of life.
Methods
This retrospective study analyzed all patients who were diagnosed with ADA deficiency at the Hospital for Sick Children between 1984 and 2012 and had at least one documented complete bloodcount with differential in the first 180 days of life.
A diagnosis of ADA deficiency was made when erythrocytes ADA enzyme activity was less than 1-2% of control and/or demonstration of mutations in the ADA gene.
Neutropenia was defined as the absolute neutrophil count of less than 6.0 x 109/L for ages ≤ 6 days, less than 1.5 x 109/L for ages 7-13 days, less than 1.0 x 109/L for ages 14-89 daysand less than 1.5 x 109/L for ages ≥ 90 days. Patients were excluded if neutropenia was first documented after chemotherapy for HSCT.
Results
Thirteen patients with ADA deficiency were included in the study. Nine of the 13 patients had neutropenia that was first documented within the first 180 days of life (median age of first neutropenia 70 days, range 1-176 days). In 5 patients, theneutropenia was not present on the initial blood count but developed over time. The lowest neutrophil counts ranged from 0.11-1.08 x 109/L (median 0.5 x 109/L). The neutropenia developed in 7 patients prior to the onset of cotrimoxazole or other medications that commonly have myelosuppressive effects. The neutropenia was not associated with infections commonly causing neutropenia or with autoimmunemanifestations. Bone marrow examinations in 2 patients with neutropenia were reported as normal. The neutropenia improved spontaneously in 3 patients, while in 4 additional patients it resolved after initiation of PEG-ADA replacement therapy or HSCT.
Conclusions
Neutropenia occurs commonly in patients with ADA deficiency. Further studies are required to determine the pathogenesis of the neutropenia inADA deficiency.
http://www.aacijournal.com/content/10/S1/A41


















La neutropenia en pacientes con deficiencia de adenosina deaminasa
Vy HD Kim * , Jaim R Roifman y Eyal Grunebaum

* Autor para correspondencia : Vy HD Kim vy.kim @ sickkids.ca

Afiliaciones de los autores
División de Inmunología Clínica y Alergia, Departamento de Pediatría , Hospital para...