NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene
Carregando...
Citações na Scopus
4
Tipo de produção
article
Data de publicação
2014
Título da Revista
ISSN da Revista
Título do Volume
Editora
ACADEMIC PRESS INC ELSEVIER SCIENCE
Citação
CLINICAL IMMUNOLOGY, v.154, n.2, p.100-104, 2014
Resumo
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.
Palavras-chave
Mucopolysaccharidoses, NK cells, B cells, Immunodeficiency, Autoimmunity
Referências
- Araya K, 2009, MOL GENET METAB, V98, P255, DOI 10.1016/j.ymgme.2009.05.006
- Biron CA, 2010, NAT IMMUNOL, V11, P1080, DOI 10.1038/ni1210-1080
- Blanca IR, 2001, J IMMUNOL, V167, P6132
- Blott EJ, 2002, NAT REV MOL CELL BIO, V3, P122, DOI 10.1038/nrm732
- Bryceson YT, 2008, CURR OPIN IMMUNOL, V20, P344, DOI 10.1016/j.coi.2008.03.005
- Cerwenka A, 2001, IMMUNOL REV, V181, P158, DOI 10.1034/j.1600-065X.2001.1810113.x
- CLEVERS HC, 1993, IMMUNOL TODAY, V14, P591, DOI 10.1016/0167-5699(93)90198-T
- Di Santo JP, 2006, ANNU REV IMMUNOL, V24, P257, DOI 10.1146/annurev.immunol.24.021605.090700
- Flodstrom-Tullberg M, 2009, CURR OPIN IMMUNOL, V21, P634, DOI 10.1016/j.coi.2009.09.012
- GEORGOPOULOS K, 1992, MOL CELL BIOL, V12, P747
- GEORGOPOULOS K, 1994, CELL, V79, P143, DOI 10.1016/0092-8674(94)90407-3
- GEORGOPOULOS K, 1992, SCIENCE, V258, P808, DOI 10.1126/science.1439790
- Gregoire C, 2007, IMMUNOL REV, V220, P169, DOI 10.1111/j.1600-065X.2007.00563.x
- Hesslein DGT, 2011, ADV IMMUNOL, V109, P45, DOI 10.1016/B978-0-12-387664-5.00002-9
- Holt OJ, 2006, J BIOCHEM, V140, P7, DOI 10.1093/jb/mvj126
- Hsing LC, 2005, IMMUNOL REV, V207, P229, DOI 10.1111/j.0105-2896.2005.00310.x
- Kato T, 2005, J HUM GENET, V50, P395, DOI 10.1007/s10038-005-0266-4
- Kirstetter P, 2002, EUR J IMMUNOL, V32, P720, DOI 10.1002/1521-4141(200203)32:3<720::AID-IMMU720>3.0.CO;2-P
- Kolch W, 2005, NAT REV MOL CELL BIO, V6, P827, DOI 10.1038/nrm1743
- Lanier LL, 2008, NAT IMMUNOL, V9, P495, DOI 10.1038/ni1581
- Li P, 2005, IMMUNOL REV, V207, P206, DOI 10.1111/j.0105-2896.2005.00297.x
- Martin R, 2008, PEDIATRICS, V121, pE377, DOI 10.1542/peds.2007-1350
- Mor A, 2006, ANNU REV IMMUNOL, V24, P771, DOI 10.1146/annurev.immunol.24.021605.090723
- Moraes-Pinto M.I., 2006, IMMUNODEFIC DISORD, V3, P1
- Muenzer J, 2009, PEDIATRICS, V124, pE1228, DOI 10.1542/peds.2008-0999
- Muenzer J, 2004, J PEDIATR, V144, pS27, DOI 10.1016/j.jpeds.2004.01.052
- Ng S, 2011, NEW ENGL J MED, V364, P586, DOI 10.1056/NEJMc1012485
- Orange JS, 2006, CLIN IMMUNOL, V118, P1, DOI 10.1016/j.clin.2005.10.011
- Quaio CRDC, 2012, JIMD REP, V4, P125, DOI 10.1007/8904_2011_90
- Radoja S, 2006, CRIT REV IMMUNOL, V26, P265
- Schmid D, 2005, CELL DEATH DIFFER, V12, P1519, DOI 10.1038/sj.cdd.4401727
- Schmid D, 2006, J MOL MED-JMM, V84, P194, DOI 10.1007/s00109-005-0014-4
- Sun JC, 2011, NAT REV IMMUNOL, V11, P645, DOI 10.1038/nri3044
- Vivier E, 2008, NAT IMMUNOL, V9, P503, DOI 10.1038/ni1582
- von Bubnoff D, 2010, J ALLERGY CLIN IMMUN, V125, P60, DOI 10.1016/j.jaci.2009.11.020
- Zingoni A, 2004, J IMMUNOL, V173, P3716
Coleções
Artigos e Materiais de Revistas Científicas - FM/MPE
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - LIM/03
Artigos e Materiais de Revistas Científicas - LIM/36
Artigos e Materiais de Revistas Científicas - ODS/03
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - LIM/03
Artigos e Materiais de Revistas Científicas - LIM/36
Artigos e Materiais de Revistas Científicas - ODS/03