{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:07:52Z","timestamp":1761102472207,"version":"3.37.3"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,5,29]],"date-time":"2021-05-29T00:00:00Z","timestamp":1622246400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,5,29]],"date-time":"2021-05-29T00:00:00Z","timestamp":1622246400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Infect Dis"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Heterozygous mutations in the transcription factor GATA2 result in a wide spectrum of clinical phenotypes, including monocytopenia and<jats:italic>Mycobacterium avium<\/jats:italic>complex (MAC) infection (MonoMAC) syndrome. Patients with MonoMAC syndrome typically are infected by disseminated nontuberculous mycobacteria, fungi, and human papillomavirus, exhibit pulmonary alveolar proteinosis during late adolescence or early adulthood, and manifest with decreased content of dendritic cells (DCs), monocytes, and B and natural killer (NK) cells.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>A 39-year-old woman was diagnosed with MonoMAC syndrome postmortem. Although she was followed up based on the symptoms associated with leukocytopenia that was disguised as sarcoidosis with bone marrow involvement, she developed disseminated nontuberculous mycobacterial infection, fungemia, and MonoMAC syndrome after childbirth. Genetic testing revealed a heterozygous missense mutation in GATA2 (c.1114G\u2009&gt;\u2009A, p.A372T). Immunohistochemistry and flow cytometry showed the disappearance of DCs and decreased frequency of NK cells in the bone marrow, respectively, after childbirth.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>To the best of our knowledge, this is the first study reporting that MonoMAC syndrome can be exacerbated after childbirth, and that immunohistochemistry of bone marrow sections to detect decreased DC content is useful to suspect MonoMAC syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1186\/s12879-021-06203-7","type":"journal-article","created":{"date-parts":[[2021,7,6]],"date-time":"2021-07-06T09:03:11Z","timestamp":1625562191000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Disseminated nontuberculous mycobacteriosis and fungemia after second delivery in a patient with MonoMAC syndrome\/GATA2 mutation: a case report"],"prefix":"10.1186","volume":"21","author":[{"given":"Mizuki","family":"Haraguchi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0962-5731","authenticated-orcid":false,"given":"Norihiro","family":"Harada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junko","family":"Watanabe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitomi","family":"Yoshikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukina","family":"Shirai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moegi","family":"Komura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mika","family":"Koyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Ito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yutaka","family":"Tsukune","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiya","family":"Horimoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takuo","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsutaro","family":"Nagaoka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshimasa","family":"Uekusa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuhisa","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,5,29]]},"reference":[{"issue":"10","key":"6203_CR1","doi-asserted-by":"publisher","first-page":"2653","DOI":"10.1182\/blood-2011-05-356352","volume":"118","author":"AP Hsu","year":"2011","unstructured":"Hsu AP, Sampaio EP, Khan J, Calvo KR, Lemieux JE, Patel SY, et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood. 2011;118(10):2653\u20135. https:\/\/doi.org\/10.1182\/blood-2011-05-356352.","journal-title":"Blood."},{"issue":"8","key":"6203_CR2","doi-asserted-by":"publisher","first-page":"1519","DOI":"10.1182\/blood-2009-03-208629","volume":"115","author":"DC Vinh","year":"2010","unstructured":"Vinh DC, Patel SY, Uzel G, Anderson VL, Freeman AF, Olivier KN, et al. Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Blood. 2010;115(8):1519\u201329. https:\/\/doi.org\/10.1182\/blood-2009-03-208629.","journal-title":"Blood."},{"issue":"10","key":"6203_CR3","doi-asserted-by":"publisher","first-page":"2656","DOI":"10.1182\/blood-2011-06-360313","volume":"118","author":"RE Dickinson","year":"2011","unstructured":"Dickinson RE, Griffin H, Bigley V, Reynard LN, Hussain R, Haniffa M, et al. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood. 2011;118(10):2656\u20138. https:\/\/doi.org\/10.1182\/blood-2011-06-360313.","journal-title":"Blood."},{"issue":"10","key":"6203_CR4","doi-asserted-by":"publisher","first-page":"1012","DOI":"10.1038\/ng.913","volume":"43","author":"CN Hahn","year":"2011","unstructured":"Hahn CN, Chong CE, Carmichael CL, Wilkins EJ, Brautigan PJ, Li XC, et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet. 2011;43(10):1012\u20137. https:\/\/doi.org\/10.1038\/ng.913.","journal-title":"Nat Genet"},{"issue":"10","key":"6203_CR5","doi-asserted-by":"publisher","first-page":"929","DOI":"10.1038\/ng.923","volume":"43","author":"P Ostergaard","year":"2011","unstructured":"Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ, et al. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet. 2011;43(10):929\u201331. https:\/\/doi.org\/10.1038\/ng.923.","journal-title":"Nat Genet"},{"issue":"14","key":"6203_CR6","doi-asserted-by":"publisher","first-page":"2669","DOI":"10.1182\/blood-2012-09-453969","volume":"121","author":"EM Mace","year":"2013","unstructured":"Mace EM, Hsu AP, Monaco-Shawver L, Makedonas G, Rosen JB, Dropulic L, et al. Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset. Blood. 2013;121(14):2669\u201377. https:\/\/doi.org\/10.1182\/blood-2012-09-453969.","journal-title":"Blood."},{"issue":"6","key":"6203_CR7","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1182\/blood-2013-07-517151","volume":"123","author":"RE Dickinson","year":"2014","unstructured":"Dickinson RE, Milne P, Jardine L, Zandi S, Swierczek SI, McGovern N, et al. The evolution of cellular deficiency in GATA2 mutation. Blood. 2014;123(6):863\u201374. https:\/\/doi.org\/10.1182\/blood-2013-07-517151.","journal-title":"Blood."},{"issue":"1","key":"6203_CR8","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1097\/ACI.0000000000000126","volume":"15","author":"AP Hsu","year":"2015","unstructured":"Hsu AP, McReynolds LJ, Holland SM. GATA2 deficiency. Curr Opin Allergy Clin Immunol. 2015;15(1):104\u20139. https:\/\/doi.org\/10.1097\/ACI.0000000000000126.","journal-title":"Curr Opin Allergy Clin Immunol"},{"issue":"5","key":"6203_CR9","doi-asserted-by":"publisher","first-page":"822","DOI":"10.1182\/blood-2012-08-447367","volume":"121","author":"M Pasquet","year":"2013","unstructured":"Pasquet M, Bellanne-Chantelot C, Tavitian S, Prade N, Beaupain B, Larochelle O, et al. High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood. 2013;121(5):822\u20139. https:\/\/doi.org\/10.1182\/blood-2012-08-447367.","journal-title":"Blood."},{"issue":"8","key":"6203_CR10","doi-asserted-by":"publisher","first-page":"1278","DOI":"10.3324\/haematol.2017.181909","volume":"103","author":"J Donadieu","year":"2018","unstructured":"Donadieu J, Lamant M, Fieschi C, de Fontbrune FS, Caye A, Ouachee M, et al. Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients. Haematologica. 2018;103(8):1278\u201387. https:\/\/doi.org\/10.3324\/haematol.2017.181909.","journal-title":"Haematologica."},{"issue":"6","key":"6203_CR11","doi-asserted-by":"publisher","first-page":"809","DOI":"10.1182\/blood-2013-07-515528","volume":"123","author":"MA Spinner","year":"2014","unstructured":"Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014;123(6):809\u201321. https:\/\/doi.org\/10.1182\/blood-2013-07-515528.","journal-title":"Blood."},{"issue":"11","key":"6203_CR12","doi-asserted-by":"publisher","first-page":"1387","DOI":"10.1182\/blood-2015-09-669937","volume":"127","author":"MW Wlodarski","year":"2016","unstructured":"Wlodarski MW, Hirabayashi S, Pastor V, Stary J, Hasle H, Masetti R, et al. Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. Blood. 2016;127(11):1387\u201397; quiz 518. https:\/\/doi.org\/10.1182\/blood-2015-09-669937.","journal-title":"Blood."},{"issue":"8","key":"6203_CR13","doi-asserted-by":"publisher","first-page":"1081","DOI":"10.3324\/haematol.2011.048355","volume":"96","author":"V Bigley","year":"2011","unstructured":"Bigley V, Collin M. Dendritic cell, monocyte, B and NK lymphoid deficiency defines the lost lineages of a new GATA-2 dependent myelodysplastic syndrome. Haematologica. 2011;96(8):1081\u20133. https:\/\/doi.org\/10.3324\/haematol.2011.048355.","journal-title":"Haematologica."},{"issue":"1","key":"6203_CR14","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1186\/s12948-016-0048-x","volume":"14","author":"MP Piccinni","year":"2016","unstructured":"Piccinni MP, Lombardelli L, Logiodice F, Kullolli O, Parronchi P, Romagnani S. How pregnancy can affect autoimmune diseases progression? Clin Mol Allergy. 2016;14(1):11. https:\/\/doi.org\/10.1186\/s12948-016-0048-x.","journal-title":"Clin Mol Allergy"},{"issue":"9","key":"6203_CR15","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1016\/S0002-9343(00)00615-X","volume":"109","author":"KS Tan","year":"2000","unstructured":"Tan KS, Thomson NC. Asthma in pregnancy. Am J Med. 2000;109(9):727\u201333. https:\/\/doi.org\/10.1016\/S0002-9343(00)00615-X.","journal-title":"Am J Med"},{"key":"6203_CR16","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/j.bpobgyn.2019.11.004","volume":"64","author":"EC Somers","year":"2020","unstructured":"Somers EC. Pregnancy and autoimmune diseases. Best Pract Res Clin Obstet Gynaecol. 2020;64:3\u201310. https:\/\/doi.org\/10.1016\/j.bpobgyn.2019.11.004.","journal-title":"Best Pract Res Clin Obstet Gynaecol"},{"issue":"1","key":"6203_CR17","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1111\/imr.12280","volume":"265","author":"FL van de Veerdonk","year":"2015","unstructured":"van de Veerdonk FL, Joosten LA, Netea MG. The interplay between inflammasome activation and antifungal host defense. Immunol Rev. 2015;265(1):172\u201380. https:\/\/doi.org\/10.1111\/imr.12280.","journal-title":"Immunol Rev"},{"issue":"2","key":"6203_CR18","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1084\/jem.20101459","volume":"208","author":"V Bigley","year":"2011","unstructured":"Bigley V, Haniffa M, Doulatov S, Wang XN, Dickinson R, McGovern N, et al. The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. J Exp Med. 2011;208(2):227\u201334. https:\/\/doi.org\/10.1084\/jem.20101459.","journal-title":"J Exp Med"},{"issue":"9","key":"6203_CR19","doi-asserted-by":"publisher","first-page":"1853","DOI":"10.1084\/jem.20090746","volume":"206","author":"G Darrasse-Jeze","year":"2009","unstructured":"Darrasse-Jeze G, Deroubaix S, Mouquet H, Victora GD, Eisenreich T, Yao KH, et al. Feedback control of regulatory T cell homeostasis by dendritic cells in vivo. J Exp Med. 2009;206(9):1853\u201362. https:\/\/doi.org\/10.1084\/jem.20090746.","journal-title":"J Exp Med"},{"issue":"1","key":"6203_CR20","doi-asserted-by":"crossref","first-page":"128","DOI":"10.4049\/jimmunol.155.1.128","volume":"155","author":"MP Piccinni","year":"1995","unstructured":"Piccinni MP, Giudizi MG, Biagiotti R, Beloni L, Giannarini L, Sampognaro S, et al. Progesterone favors the development of human T helper cells producing Th2-type cytokines and promotes both IL-4 production and membrane CD30 expression in established Th1 cell clones. J Immunol. 1995;155(1):128\u201333.","journal-title":"J Immunol"},{"issue":"12","key":"6203_CR21","doi-asserted-by":"publisher","first-page":"796","DOI":"10.1016\/j.micinf.2013.06.012","volume":"15","author":"L Xu","year":"2013","unstructured":"Xu L, Dong B, Wang H, Zeng Z, Liu W, Chen N, et al. Progesterone suppresses Th17 cell responses, and enhances the development of regulatory T cells, through thymic stromal lymphopoietin-dependent mechanisms in experimental gonococcal genital tract infection. Microbes Infect. 2013;15(12):796\u2013805. https:\/\/doi.org\/10.1016\/j.micinf.2013.06.012.","journal-title":"Microbes Infect"},{"issue":"2","key":"6203_CR22","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1084\/jem.2042fta","volume":"204","author":"H Bashyam","year":"2007","unstructured":"Bashyam H. Th1\/Th2 cross-regulation and the discovery of IL-10. J Exp Med. 2007;204(2):237. https:\/\/doi.org\/10.1084\/jem.2042fta.","journal-title":"J Exp Med"},{"issue":"5","key":"6203_CR23","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1210\/er.2007-0001","volume":"28","author":"RH Straub","year":"2007","unstructured":"Straub RH. The complex role of estrogens in inflammation. Endocr Rev. 2007;28(5):521\u201374. https:\/\/doi.org\/10.1210\/er.2007-0001.","journal-title":"Endocr Rev"},{"issue":"11","key":"6203_CR24","doi-asserted-by":"publisher","first-page":"2247","DOI":"10.1038\/leu.2013.105","volume":"27","author":"PG Mutsaers","year":"2013","unstructured":"Mutsaers PG, van de Loosdrecht AA, Tawana K, Bodor C, Fitzgibbon J, Menko FH. Highly variable clinical manifestations in a large family with a novel GATA2 mutation. Leukemia. 2013;27(11):2247\u20138. https:\/\/doi.org\/10.1038\/leu.2013.105.","journal-title":"Leukemia."},{"issue":"1","key":"6203_CR25","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1182\/blood-2014-06-580340","volume":"125","author":"KA Ganapathi","year":"2015","unstructured":"Ganapathi KA, Townsley DM, Hsu AP, Arthur DC, Zerbe CS, Cuellar-Rodriguez J, et al. GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia. Blood. 2015;125(1):56\u201370. https:\/\/doi.org\/10.1182\/blood-2014-06-580340.","journal-title":"Blood."}],"container-title":["BMC Infectious Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12879-021-06203-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12879-021-06203-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12879-021-06203-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,2]],"date-time":"2023-01-02T23:59:25Z","timestamp":1672703965000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcinfectdis.biomedcentral.com\/articles\/10.1186\/s12879-021-06203-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,29]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["6203"],"URL":"https:\/\/doi.org\/10.1186\/s12879-021-06203-7","relation":{},"ISSN":["1471-2334"],"issn-type":[{"type":"electronic","value":"1471-2334"}],"subject":[],"published":{"date-parts":[[2021,5,29]]},"assertion":[{"value":"4 September 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 May 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 May 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The present case report was approved by the Juntendo University Research Ethics Committee (Tokyo, Japan).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the family of patient for publication of this case report and any accompanying images.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no conflicts of interest in association with the present study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"502"}}