{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T23:19:05Z","timestamp":1781911145441,"version":"3.54.5"},"reference-count":38,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2015,5,28]],"date-time":"2015-05-28T00:00:00Z","timestamp":1432771200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100002086","name":"Fanconi Anemia Research Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002086","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:p>Immune function abnormalities have been reported in patients with Fanconi anemia (FA), dyskeratosis congenita (DC) and, rarely, in Shwachman\u2013Diamond syndrome (SDS), and Diamond\u2013Blackfan anemia (DBA), but large systematic studies are lacking. We assessed immunological parameters in 118 patients with these syndromes and 202 unaffected relatives. We compared the results in patients with reference values, and with values in relatives after adjusting for age, sex, corticosteroid treatment, and severe bone marrow failure (BMF). Adult patients (\u226518 years) with FA had significantly lower immunoglobulins (IgG, IgA and IgM), total lymphocytes, and CD4 T cells than reference values or adult relatives (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001); children with FA had normal values. Both children and adults with FA had lower B\u2010 and NK cells (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.01) than relatives or reference values. Patients with DC had essentially normal immunoglobulins but lower total lymphocytes than reference values or relatives, and lower T\u2010, B\u2010, and NK\u2010cells; these changes were more marked in children than adults (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.01). Most patients with DBA and SDS had normal immunoglobulins and lymphocytes. Lymphoproliferative responses, serum cytokine levels, including tumor necrosis factor\u2010\u03b1 and interferon\u2010\u03b3, and cytokine levels in supernatants from phytohemagglutinin\u2010stimulated cultures were similar across patient groups and relatives. Only patients with severe BMF, particularly those with FA and DC, had higher serum G\u2010CSF and Flt3\u2010ligand and lower RANTES levels compared with all other groups or relatives (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.05). Overall, immune function abnormalities were seen mainly in adult patients with FA, which likely reflects their disease\u2010related progression, and in children with DC, which may be a feature of early\u2010onset severe disease phenotype. Am. J. Hematol. 90:702\u2013708, 2015. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajh.24046","type":"journal-article","created":{"date-parts":[[2015,5,12]],"date-time":"2015-05-12T07:35:17Z","timestamp":1431416117000},"page":"702-708","source":"Crossref","is-referenced-by-count":42,"title":["Immune status of patients with inherited bone marrow failure syndromes"],"prefix":"10.1002","volume":"90","author":[{"given":"Neelam","family":"Giri","sequence":"first","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics Clinical Genetics Branch National Cancer Institute, National Institutes of Health Rockville Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blanche P.","family":"Alter","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics Clinical Genetics Branch National Cancer Institute, National Institutes of Health Rockville Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keri","family":"Penrose","sequence":"additional","affiliation":[{"name":"Division of Infectious Diseases Department of Medicine Human Papillomavirus Immunology Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research Frederick Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roni T.","family":"Falk","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics Hormonal Reproductive Branch National Cancer Institute, National Institutes of Health Rockville Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanji","family":"Pan","sequence":"additional","affiliation":[{"name":"Division of Infectious Diseases Department of Medicine Human Papillomavirus Immunology Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research Frederick Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon A.","family":"Savage","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics Clinical Genetics Branch National Cancer Institute, National Institutes of Health Rockville Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus","family":"Williams","sequence":"additional","affiliation":[{"name":"Division of Infectious Diseases Department of Medicine Human Papillomavirus Immunology Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research Frederick Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Troy J.","family":"Kemp","sequence":"additional","affiliation":[{"name":"Division of Infectious Diseases Department of Medicine Human Papillomavirus Immunology Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research Frederick Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ligia A.","family":"Pinto","sequence":"additional","affiliation":[{"name":"Division of Infectious Diseases Department of Medicine Human Papillomavirus Immunology Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research Frederick Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,5,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2010.03.002"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2000.02109.x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2001.02996.x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1615\/CritRevImmunol.v26.i1.40"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2249.2010.04280.x"},{"key":"e_1_2_8_7_1","first-page":"137","article-title":"Production of interleukin 6, leukemia inhibitory factor and granulocyte\u2010macrophage colony stimulating factor by peripheral blood mononuclear cells in Fanconi's anemia","volume":"11","author":"Bagnara GP","year":"1993","journal-title":"Stem Cells"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000040861"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-01-0114"},{"key":"e_1_2_8_10_1","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1182\/blood.V83.5.1216.1216","article-title":"Abnormal lymphokine production: A novel feature of the genetic disease Fanconi anemia. 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