{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T10:09:59Z","timestamp":1790244599780,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T00:00:00Z","timestamp":1763510400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T00:00:00Z","timestamp":1763510400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Pathogenic variants in\n                    <jats:italic>IKZF1<\/jats:italic>\n                    (IKAROS) are linked to immunodeficiency, malignancy, and immune dysregulation. We describe a family with a rare\n                    <jats:italic>IKZF1<\/jats:italic>\n                    variant presenting with humoral immunodeficiency and thrombotic thrombocytopenic purpura (TTP). A non\u2010consanguineous family was clinically monitored; clinical, immunological, and genetic data (exome sequencing and segregation analysis) were collected. Two siblings developed recurrent infections and relapsing TTP with low ADAMTS13 activity and anti\u2010ADAMTS13 antibodies. Both harbored a heterozygous missense\n                    <jats:italic>IKZF1<\/jats:italic>\n                    variant (c.487C&gt;T; p.His163Tyr). Other relatives were tested negative. This expands the\n                    <jats:italic>IKZF1<\/jats:italic>\n                    \u2010related disorder spectrum to include TTP with variable immune manifestations.\n                  <\/jats:p>","DOI":"10.1002\/pbc.32173","type":"journal-article","created":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T07:54:43Z","timestamp":1763625283000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["IKAROS Associated Immunodeficiency and Thrombotic Thrombocytopenic Purpura"],"prefix":"10.1002","volume":"73","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5950-7437","authenticated-orcid":false,"given":"Ilia","family":"Spivak","sequence":"first","affiliation":[{"name":"Department of Pediatrics B Ruth Children's Hospital, Rambam Health Care Campus  Haifa Israel"},{"name":"Clinical Immunology Angioedema and Allergy Institute, The Center for Autoimmune Diseases, Sheba Medical Center  Tel\u2010Hashomer Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniella","family":"Magen","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Institute Ruth Children's Hospital, Rambam Health Care Campus  Haifa Israel"},{"name":"The Bruce Rappaport Faculty of Medicine Technion\u2013Israel Institute of Technology  Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Weiss","sequence":"additional","affiliation":[{"name":"The Bruce Rappaport Faculty of Medicine Technion\u2013Israel Institute of Technology  Haifa Israel"},{"name":"The Genetics Institute Rambam Health Care Campus  Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamar","family":"Paperna","sequence":"additional","affiliation":[{"name":"The Genetics Institute Rambam Health Care Campus  Haifa 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Health Care Campus  Haifa Israel"},{"name":"The Bruce Rappaport Faculty of Medicine Technion\u2013Israel Institute of Technology  Haifa Israel"},{"name":"Pediatric Rheumatology Unit Ruth Children's Hospital, Rambam Health Care Campus  Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yonatan Butbul","family":"Aviel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics B Ruth Children's Hospital, Rambam Health Care Campus  Haifa Israel"},{"name":"The Bruce Rappaport Faculty of Medicine Technion\u2013Israel Institute of Technology  Haifa Israel"},{"name":"Pediatric Rheumatology Unit Ruth Children's Hospital, Rambam Health Care Campus  Haifa 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X.Sui Q.Hou et\u00a0al. \u201cAssociation Between Ikzf1 Related Gene Polymorphism DNA Methylation and Rheumatoid Arthritis in Han Chinese: A Case\u2010Control Study \u201dAuthorea published June 1 2020 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