| Full text | |
| Author(s): |
Torres, Leuridan Cavalcante
[1, 2]
;
de Queiroz Soares, Diogo Cordeiro
[1, 3]
;
Kulikowski, Leslie Domenici
[4]
;
Franco, Jose Francisco
[3]
;
Kim, Chong Ae
[3]
Total Authors: 5
|
| Affiliation: | [1] Inst Med Integral Prof Fernando Figueira IMIP, Translat Res Lab Prof CA Hart, BR-50070550 Recife, PE - Brazil
[2] Univ Sao Paulo, Hosp Clin, Fac Med, Med Invest Lab LIM 36, Sao Paulo - Brazil
[3] Univ Sao Paulo, Hosp Clin, Fac Med, Med Genet Unit, Sao Paulo - Brazil
[4] Univ Sao Paulo, Dept Pathol, Citogen Lab LIM 03, Sao Paulo - Brazil
Total Affiliations: 4
|
| Document type: | Journal article |
| Source: | Clinical Immunology; v. 154, n. 2, p. 100-104, OCT 2014. |
| Web of Science Citations: | 0 |
| Abstract | |
The mucopolysaccharidoses (MPSs) are a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy. Whereas the lysosome is essential to the functioning of the immune system, some authors suggest that the MPS patients have abnormalities in the immune system similar to the patients with primary immunodeficiency. In this study, we evaluated 8 male MPS type II patients of the same family with novel mutation in the IDS gene. We found in this MPS family a quantitative deficiency of NK and B cells with normal values of IgG, IgM and IgA serum antibodies and normal response to polysaccharide antigens. Interestingly, abnormalities found in these patients were not observed in other MPS patients, suggesting that the type of mutation found in the IDS gene can be implicated in the immunodeficiency. (C) 2014 Elsevier Inc. All rights reserved. (AU) | |