{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:10:58Z","timestamp":1753891858850,"version":"3.41.2"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,3,15]],"date-time":"2023-03-15T00:00:00Z","timestamp":1678838400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:p>Acute myeloid leukemia (AML) is a complex diagnosis that puts patients at a higher risk for developing infections, particularly invasive fungal infections (IFI). Mutations in <jats:italic>TNFRSF13B<\/jats:italic> have been shown to cause dysfunction in B-cell homeostasis and differentiation, making it a risk factor for developing immunodeficiency syndromes. In this case, a male patient in his 40s presented to our emergency department (ED) with symptoms leading to a diagnosis of AML with concurrent mucormycosis of the lungs and sinuses. Targeted next generation sequencing (NGS) of the patient\u2019s bone marrow showed, among other variants, a loss of function mutation in the <jats:italic>TNFRSF13B<\/jats:italic> gene. While most patients present with fungal infections after prolonged periods of neutropenia associated with AML treatment, this case presented with IFI at diagnosis without neutropenia suggesting an immunodeficiency syndrome. The concurrent IFI and AML diagnoses create a delicate balance between treatment of the infection and the malignancy. This case highlights the risk of infection in patients receiving chemotherapy, especially those with unrecognized immunodeficiency syndromes, and emphasizes the importance of NGS for prognosis and treatment.<\/jats:p>","DOI":"10.3389\/fonc.2023.1017230","type":"journal-article","created":{"date-parts":[[2023,3,15]],"date-time":"2023-03-15T05:10:39Z","timestamp":1678857039000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case report: Invasive fungal infection in a patient with a rare CVID-causing gene (TNFRSF13B) mutation undergoing AML treatment"],"prefix":"10.3389","volume":"13","author":[{"given":"Carine","family":"Tabak","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen","family":"Hyter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdulraheem","family":"Yacoub","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth","family":"Byrd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"McGuirk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew K.","family":"Godwin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haitham","family":"Abdelhakim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2023,3,15]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1406184","article-title":"Acute myeloid leukemia","volume":"373","author":"Dohner","year":"2015","journal-title":"N Engl J Med"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1177\/2040620711410098","article-title":"Invasive fungal infections in acute leukemia","volume":"2","author":"Bhatt","year":"2011","journal-title":"Ther Adv Hematol"},{"key":"B3","article-title":"The epidemiology of fungal infections in patients with hematologic malignancies: The seifem-2004 study","volume":"91","author":"Pagano","year":"2006","journal-title":"Haematologica"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-04-516211","article-title":"How we treat invasive fungal diseases in patients with acute leukemia: The importance of an individualized approach","volume":"124","author":"Nucci","year":"2014","journal-title":"Blood"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1086\/323895","article-title":"Trends in the epidemiology of opportunistic fungal infections: Predisposing factors and the impact of antimicrobial use practices","volume":"33","author":"Singh","year":"2001","journal-title":"Clin Infect Dis"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.21776","article-title":"Invasive fungal disease in patients treated for newly diagnosed acute leukemia","volume":"85","author":"Hammond","year":"2010","journal-title":"Am J Hematol"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1007\/s12185-008-0184-2","article-title":"Significant alterations in the epidemiology and treatment outcome of invasive fungal infections in patients with hematological malignancies","volume":"88","author":"Auberger","year":"2008","journal-title":"Int J Hematol"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1086\/502581","article-title":"Excess mortality, hospital stay, and cost due to candidemia: A case-control study using data from population-based candidemia surveillance","volume":"26","author":"Morgan","year":"2005","journal-title":"Infect Control Hosp Epidemiol"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa061094","article-title":"Posaconazole vs. fluconazole or itraconazole prophylaxis in patients with neutropenia","volume":"356","author":"Cornely","year":"2007","journal-title":"New Engl J Med"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-07-627323","article-title":"Primary antifungal prophylaxis during curative-intent therapy for acute myeloid leukemia","volume":"126","author":"Halpern","year":"2015","journal-title":"Blood"},{"key":"B11","doi-asserted-by":"publisher","first-page":"3372","DOI":"10.1182\/blood-2021-146620","article-title":"Incidence of breakthrough fungal infections in acute myeloid leukemia patients receiving low intensity therapy in the upfront and Relapsed\/Refractory setting","volume":"138","author":"Shuman","year":"2021","journal-title":"Blood"},{"key":"B12","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1007\/s11046-019-00418-8","article-title":"Breakthrough invasive fungal infections in patients with acute myeloid leukemia","volume":"185","author":"Wasylyshyn","year":"2020","journal-title":"Mycopathologia"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1038\/ng1600","article-title":"Mutations in Tnfrsf13b encoding taci are associated with common variable immunodeficiency in humans","volume":"37","author":"Salzer","year":"2005","journal-title":"Nat Genet"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1155\/2016\/8390356","article-title":"Clinical associations of biallelic and monoallelic Tnfrsf13b variants in Italian primary antibody deficiency syndromes","volume":"2016","author":"Pulvirenti","year":"2016","journal-title":"J Immunol Res"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M005224200","article-title":"Tumor necrosis factor (Tnf) receptor superfamily member taci is a high affinity receptor for tnf family members April and blys","volume":"275","author":"Wu","year":"2000","journal-title":"J Biol Chem"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20032000","article-title":"Taci and baff-r mediate isotype switching in b cells","volume":"201","author":"Castigli","year":"2005","journal-title":"J Exp Med"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2015.05.012","article-title":"Tnf receptor superfamily member 13b (Tnfrsf13b) hemizygosity reveals transmembrane activator and caml interactor haploinsufficiency at later stages of b-cell development","volume":"136","author":"Romberg","year":"2015","journal-title":"J Allergy Clin Immunol"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2249.2008.03863.x","article-title":"Taci mutations and disease susceptibility in patients with common variable immunodeficiency","volume":"156","author":"Poodt","year":"2009","journal-title":"Clin Exp Immunol"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.3390\/jpm11101003","article-title":"New drugs bringing new challenges to aml: A brief review","volume":"11","author":"Yeoh","year":"2021","journal-title":"J Pers Med"}],"container-title":["Frontiers in Oncology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2023.1017230\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,3,15]],"date-time":"2023-03-15T05:10:42Z","timestamp":1678857042000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2023.1017230\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,15]]},"references-count":19,"alternative-id":["10.3389\/fonc.2023.1017230"],"URL":"https:\/\/doi.org\/10.3389\/fonc.2023.1017230","relation":{},"ISSN":["2234-943X"],"issn-type":[{"type":"electronic","value":"2234-943X"}],"subject":[],"published":{"date-parts":[[2023,3,15]]},"article-number":"1017230"}}