{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:30:12Z","timestamp":1786977012366,"version":"build-2736575974"},"reference-count":13,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2008,7,30]],"date-time":"2008-07-30T00:00:00Z","timestamp":1217376000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arthritis &amp; Rheumatism"],"published-print":{"date-parts":[[2008,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Herein we report the case of a 20\u2010year\u2010old woman who presented with multiple skin ulcers on her legs, severe pansinusitis, and chronic lung disease. She was initially thought to have Wegener's granulomatosis (WG). However, serologic studies indicated an HLA class I deficiency, which was confirmed by flow cytometry. Complementation studies and reverse transcriptase\u2013polymerase chain reaction followed by direct DNA sequencing revealed a mutation in the gene encoding subunit 1 of the peptide transporter associated with antigen processing (TAP1). This mutation, which has not been previously described in the literature, results in a stop codon in the catalytic domain of TAP1. Although TAP mutations are rare, clinicians may encounter them in the evaluation of patients with suspected WG. In patients with WG\u2010like symptoms it is important to consider this alternative genetic diagnosis as early as possible, not only so that appropriate antibiotic therapy can be initiated to prevent bronchiectasis, but also to avoid inappropriate immunosuppressive therapy that worsens the disease.<\/jats:p>","DOI":"10.1002\/art.23675","type":"journal-article","created":{"date-parts":[[2008,8,2]],"date-time":"2008-08-02T01:17:08Z","timestamp":1217639828000},"page":"2579-2582","source":"Crossref","is-referenced-by-count":44,"title":["HLA class I deficiency syndrome mimicking Wegener's granulomatosis"],"prefix":"10.1002","volume":"58","author":[{"given":"Alexandra","family":"Villa\u2010Forte","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henri","family":"de la Salle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Fricker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francois","family":"Hentges","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Zimmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,7,30]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2249.2000.01264.x"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI5687"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/hci112"},{"key":"e_1_2_5_5_2","first-page":"381","volume-title":"Inflammatory diseases of blood vessels","author":"Hoffman GS","year":"2002"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1152\/physiol.00002.2004"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0001033"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2249.2002.01862.x"},{"key":"e_1_2_5_9_2","doi-asserted-by":"crossref","first-page":"4555","DOI":"10.4049\/jimmunol.158.10.4555","article-title":"Human peptide transporter deficiency: importance of HLA\u2010B in the presentation of TAP\u2010independent EBV antigens","volume":"158","author":"De la Salle H","year":"1997","journal-title":"J Immunol"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2005.078097"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.parint.2006.02.003"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(99)04206-3"},{"key":"e_1_2_5_13_2","first-page":"203","article-title":"Endocarditis associated with ANCA","volume":"12","author":"Soto A","year":"1994","journal-title":"Clin Exp Rheumatol"},{"key":"e_1_2_5_14_2","first-page":"312","article-title":"Prolonged survival of a bare lymphocyte syndrome type I patient with diffuse panbronchiolitis treated with erythromycin","volume":"18","author":"Azuma A","year":"2001","journal-title":"Sarcoidosis Vasc Diffuse Lung Dis"}],"container-title":["Arthritis &amp; Rheumatism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fart.23675","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/art.23675","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T18:31:49Z","timestamp":1696962709000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/art.23675"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,7,30]]},"references-count":13,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2008,8]]}},"alternative-id":["10.1002\/art.23675"],"URL":"https:\/\/doi.org\/10.1002\/art.23675","archive":["Portico"],"relation":{},"ISSN":["0004-3591","1529-0131"],"issn-type":[{"value":"0004-3591","type":"print"},{"value":"1529-0131","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,7,30]]}}}