{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T13:19:58Z","timestamp":1762867198828},"reference-count":15,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2017,8,21]],"date-time":"2017-08-21T00:00:00Z","timestamp":1503273600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Transfusion"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Thrombotic thrombocytopenia purpura (TTP) is a rare and life\u2010threatening thrombotic microangiopathy characterized by thrombocytopenia and microangiopathic hemolytic anemia. It is caused by deficiency of ADAMTS13 metalloprotease, which cleaves ultra\u2010large von Willebrand factor into smaller functional units. TTP may be congenital or acquired, and the congenital form is caused by inherited mutations in the <jats:italic>ADAMTS13<\/jats:italic> gene, leading to deficiency of protein or reduced protein activity.<\/jats:p><\/jats:sec><jats:sec><jats:title>CASE REPORT<\/jats:title><jats:p>We report a 5\u2010year\u2010old male patient who manifested with thrombocytopenia and microangiopathic hemolytic anemia at the age of 1 year.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p>ADAMTS13 activity in the patient was below 5%, and ADAMTS13 antibody was absent. Subsequent genetic analysis of the <jats:italic>ADAMTS13<\/jats:italic> gene revealed a novel homozygous mutation (i.e., frameshift insertion mutation <jats:italic>A237GfsX153<\/jats:italic> [c.708_709insG] in Exon 7 of <jats:italic>ADAMTS13<\/jats:italic>). Both parents were heterozygous for this mutation.<\/jats:p><\/jats:sec>","DOI":"10.1111\/trf.14279","type":"journal-article","created":{"date-parts":[[2017,8,22]],"date-time":"2017-08-22T03:36:43Z","timestamp":1503373003000},"page":"2712-2714","source":"Crossref","is-referenced-by-count":3,"title":["A novel homozygous frameshift mutation in Exon 7 of the <i>ADAMTS13<\/i> gene in a patient with congenital thrombotic thrombocytopenic purpura from India: a case report"],"prefix":"10.1111","volume":"57","author":[{"given":"Sneha","family":"Yadav","sequence":"first","affiliation":[{"name":"National Institute of Immunohaematology (ICMR), KEM Hospital Parel, Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shrimati","family":"Shetty","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology (ICMR), KEM Hospital Parel, Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bipin","family":"Kulkarni","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology (ICMR), KEM Hospital Parel, Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,8,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C100515200"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/35097008"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.pathmechdis.3.121806.154311"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.3109\/14767058.2015.1071789"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.4103\/0971-4065.101257"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2002.03809.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminhematol.2003.10.002"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21143"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-04-1346"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016-1565"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.13186"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2011.04341.x"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2006.06264.x"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e3182755c38"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.5482\/HAMO-16-07-0026"}],"container-title":["Transfusion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Ftrf.14279","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/trf.14279","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T17:45:47Z","timestamp":1695491147000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/trf.14279"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,21]]},"references-count":15,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["10.1111\/trf.14279"],"URL":"https:\/\/doi.org\/10.1111\/trf.14279","archive":["Portico"],"relation":{},"ISSN":["0041-1132","1537-2995"],"issn-type":[{"value":"0041-1132","type":"print"},{"value":"1537-2995","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,21]]}}}