{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T02:42:35Z","timestamp":1790649755025,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,7,4]],"date-time":"2013-07-04T00:00:00Z","timestamp":1372896000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Association Fran\u00e7aise Maladie de Rendu-Osler-Weber"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Intern Med"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Hereditary haemorrhagic telangiectasia (<jats:styled-content style=\"fixed-case\">HHT<\/jats:styled-content>) is a genetic disorder related to mutations in one of the coreceptors to the transforming growth factor\u2010\u03b2 superfamily (<jats:styled-content style=\"fixed-case\">ALK<\/jats:styled-content>1 or endoglin). Besides the obvious vascular symptoms (epistaxis and arteriovenous malformations), patients have an unexplained high risk of severe bacterial infections. The aim of the study was to assess the main immunological functions of patients with <jats:styled-content style=\"fixed-case\">HHT<\/jats:styled-content> using the standard biological tests for primary immunodeficiencies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design, setting and subjects<\/jats:title><jats:p>A prospective single\u2010centre study of 42 consecutive adult patients with an established diagnosis of <jats:styled-content style=\"fixed-case\">HHT<\/jats:styled-content> was conducted at the National French <jats:styled-content style=\"fixed-case\">HHT<\/jats:styled-content> Reference Center (Lyon). Lymphocyte subpopulations and proliferation capacity, immunoglobulin levels and neutrophil and monocyte phagocytosis, oxidative burst and chemotaxis were assessed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Innate immunity was not altered in patients with <jats:styled-content style=\"fixed-case\">HHT<\/jats:styled-content>. With regard to adaptive immunity, significant changes were seen in immunological parameters: primarily, a lymphopenia in patients with <jats:styled-content style=\"fixed-case\">HHT<\/jats:styled-content> compared with healthy control subjects affecting mean <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>4 (642 cells\u00a0\u03bcL<jats:sup>\u22121<\/jats:sup> vs. 832 cells\u00a0\u03bcL<jats:sup>\u22121<\/jats:sup>, <jats:italic>P\u00a0<\/jats:italic>&lt;<jats:italic>\u00a0<\/jats:italic>0.001), <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>8 (295 cells\u00a0\u03bcL<jats:sup>\u22121<\/jats:sup> vs. 501 cells\u00a0\u03bcL<jats:sup>\u22121<\/jats:sup>, <jats:italic>P\u00a0<\/jats:italic>&lt;<jats:italic>\u00a0<\/jats:italic>0.0001) and natural killer (<jats:styled-content style=\"fixed-case\">NK<\/jats:styled-content>) cells (169 cells\u00a0\u03bcL<jats:sup>\u22121<\/jats:sup> vs. 221 cells\u00a0\u03bcL<jats:sup>\u22121<\/jats:sup>, <jats:italic>P\u00a0<\/jats:italic>&lt;<jats:italic>\u00a0<\/jats:italic>0.01), associated with increased levels of immunoglobulins G and A. This lymphopenia mainly concerned na\u00efve T cells. Proliferation capacities of lymphocytes were normal. Lymphopenic patients had a higher frequency of iron supplementation but no increase in infection rate. Lower levels of immunoglobulin M and a higher rate of pulmonary arteriovenous malformations were found amongst patients with a history of severe infection.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Patients with <jats:styled-content style=\"fixed-case\">HHT<\/jats:styled-content> exhibit immunological abnormalities including T <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>4, T <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>8 and <jats:styled-content style=\"fixed-case\">NK<\/jats:styled-content> cell lymphopenia and increased levels of immunoglobulins G and A. The observed low level of immunoglobulin M requires further investigation to determine whether it is a specific risk factor for infection in <jats:styled-content style=\"fixed-case\">HHT<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/joim.12098","type":"journal-article","created":{"date-parts":[[2013,6,15]],"date-time":"2013-06-15T02:45:14Z","timestamp":1371264314000},"page":"351-362","source":"Crossref","is-referenced-by-count":39,"title":["Immunological abnormalities associated with hereditary haemorrhagic telangiectasia"],"prefix":"10.1111","volume":"274","author":[{"given":"A.","family":"Guilhem","sequence":"first","affiliation":[{"name":"CHU de Montpellier Service de M\u00e9decine Interne A H\u00f4pital Saint Eloi Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Malcus","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon Laboratoire d'immunologie H\u00f4pital E Herriot Lyon 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