{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:05:02Z","timestamp":1771002302480,"version":"3.50.1"},"reference-count":44,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,2,18]],"date-time":"2016-02-18T00:00:00Z","timestamp":1455753600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Respiratory J"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Fabry disease is an X\u2010linked lysosomal storage disorder, causing accumulation of globotriaosylceramid in different organs. Glycolipids are activators of different immune cell subsets the resulting inflammation is responsible for organ damage. Pulmonary involvement leads to airway inflammation; however, data on severity, as well as the effect of enzyme replacement therapy on lung function parameters and changes in peripheral immune cell subsets on lung involvement are sparse.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Seven Fabry patients and four carriers underwent detailed clinical examinations screening for pulmonary manifestations. Repetitive measurements were performed on five patients on ERT (average follow\u2010up 5 years). Patients with Fabry disease and control volunteers were included into peripheral blood cell measurements.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Lung involvement was present in all patients. Symptoms suggestive for lung disease were mild, however, obstructive ventilatory disorder, dominantly affecting small airways accompanied by hyperinflation was demonstrated in all affected patients. ERT resulted in small improvement of FEV1 in most treated patients. Decreased ratio of myeloid DC, Th17 cells while increase in T helper (Th)1 cells, and no change in Th2 and regulatory T (Treg) cells were detected in Fabry patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Fabry disease results mainly in mild symptoms related to lung involvement, characterized by moderate non\u2010reversible obstructive ventilatory disorder. Stabilization of airway obstruction during follow\u2010up was observed using ERT in most patients, emphasizing the importance of this treatment in respect of pulmonary manifestations. Changes of immune cell subsets in the peripheral blood might play a role in inflammatory process, including small airways in Fabry patient's lung.<\/jats:p><\/jats:sec>","DOI":"10.1111\/crj.12446","type":"journal-article","created":{"date-parts":[[2016,1,14]],"date-time":"2016-01-14T03:32:14Z","timestamp":1452742334000},"page":"942-950","source":"Crossref","is-referenced-by-count":18,"title":["Long time enzyme replacement therapy stabilizes obstructive lung disease and alters peripheral immune cell subsets in <scp>F<\/scp>abry patients"],"prefix":"10.1111","volume":"11","author":[{"given":"Bal\u00e1zs","family":"Odler","sequence":"first","affiliation":[{"name":"Department of Pulmonology Semmelweis University Budapest Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1ron","family":"Cseh","sequence":"additional","affiliation":[{"name":"1st Department of Pediatrics Semmelweis University Budapest Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tam\u00e1s","family":"Constantin","sequence":"additional","affiliation":[{"name":"2nd Department of Pediatrics Semmelweis University Budapest Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gy\u00f6rgy","family":"Fekete","sequence":"additional","affiliation":[{"name":"2nd Department of Pediatrics Semmelweis University Budapest Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gy\u00f6rgy","family":"Losonczy","sequence":"additional","affiliation":[{"name":"Department of Pulmonology Semmelweis University Budapest Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lilla","family":"Tam\u00e1si","sequence":"additional","affiliation":[{"name":"Department of Pulmonology Semmelweis University Budapest Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K\u00e1lm\u00e1n","family":"Benke","sequence":"additional","affiliation":[{"name":"Semmelweis University, Heart and Vascular Center Budapest Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e1lint","family":"Szilveszter","sequence":"additional","affiliation":[{"name":"Semmelweis University, Heart and Vascular Center Budapest Hungary"},{"name":"Semmelweis University, MTA\u2010SE Lend\u00fclet Cardiovascular Imaging Research Group, Heart and Vascular Center Budapest Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronika","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Department of Pulmonology Semmelweis University Budapest Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,2,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pharmthera.2009.01.003"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.11.3903"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31802d8321"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.09.013"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfm848"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2006.tb02186.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2005.tb02106.x"},{"key":"e_1_2_7_9_1","first-page":"2741","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Desnick R.J","year":"1995"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/pgmj.73.865.710"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.155.3.9116979"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0616-9"},{"key":"e_1_2_7_13_1","first-page":"339ff","article-title":"Weiterer Beitrag zur Klinik des Angiokeratoma naeviforme","volume":"90","author":"Fabry J.","year":"1930","journal-title":"Dermatol Wochenschr."},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01825509"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(80)90224-7"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1556\/OH.2010.28796"},{"key":"e_1_2_7_17_1","first-page":"681","article-title":"Fabry's disease: a correlative clinical, morphologic and biochemical study","volume":"18","author":"Bagdade JD","year":"1968","journal-title":"Lab Invest."},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2559.1991.tb01510.x"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/thorax.55.8.720"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1590\/S1415-47572012000600009"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejim.2013.05.003"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.152.3.7663792"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmed.2014.02.006"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0897.2010.00878.x"},{"issue":"19","key":"e_1_2_7_25_1","doi-asserted-by":"crossref","first-page":"1497","DOI":"10.1001\/jama.1994.03520190043033","article-title":"Effects of smoking intervention and the use of an inhaled anticholinergic bronchodilator on the rate of decline of FEV1. The Lung Health Study","volume":"272","author":"Anthonisen NR","year":"1994","journal-title":"JAMA."},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31600"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0930-x"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.13-0967"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1177\/1753465811406772"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201410-1771OC"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-007-0296-4"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.06.007"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1060-9"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1586\/1744666X.2013.837260"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1159\/000354173"},{"issue":"13","key":"e_1_2_7_36_1","first-page":"186","article-title":"Immunology taught by lung dendritic cells","volume":"139","author":"Garnier C","year":"2009","journal-title":"Swiss Med Wkly."},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.coi.2007.09.003"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2014.04.016"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20040035"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1186\/1465-9921-15-48"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pmed.0010008"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0804752"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1038\/nri2254"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1042\/CS20100033"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmed.2011.05.017"}],"container-title":["The Clinical Respiratory Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcrj.12446","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcrj.12446","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/crj.12446","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T13:50:07Z","timestamp":1695563407000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/crj.12446"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2,18]]},"references-count":44,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["10.1111\/crj.12446"],"URL":"https:\/\/doi.org\/10.1111\/crj.12446","archive":["Portico"],"relation":{},"ISSN":["1752-6981","1752-699X"],"issn-type":[{"value":"1752-6981","type":"print"},{"value":"1752-699X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,2,18]]}}}