{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T06:00:02Z","timestamp":1790316002009,"version":"4.1.0"},"reference-count":15,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T00:00:00Z","timestamp":1790294400000},"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. Pediatr."],"abstract":"<jats:p>\n                    Autoimmune hemolytic anemia (AIHA) is a highly heterogeneous disease characterized by immune-mediated destruction of red blood cells through cellular and humoral mechanisms, complement activation, cytokine release, and bone marrow compensation. Clinically, AIHA exhibits a broad spectrum of severity, ranging from mild or compensated anemia to life-threatening anemia. Traditionally, therapeutic approaches have relied on corticosteroids, immunosuppressive agents, and splenectomy as the mainstay treatment. Increasing evidence suggests that genetic factors, including variants in the\n                    <jats:italic>PLCG1<\/jats:italic>\n                    gene\u2014which plays a critical role in immune signaling and regulation\u2014may contribute to disease pathogenesis. Herein, we report a case of a 13-year-old boy diagnosed with AIHA at 11 months of age. The patient initially presented with pallor and jaundice associated with a febrile illness. The diagnostic workup revealed anemia, reticulocytosis, a peripheral blood smear consistent with AIHA, low serum-free haptoglobin levels, and a positive direct Coombs test result. Next-generation sequencing identified a novel heterozygous\n                    <jats:italic>PLCG1<\/jats:italic>\n                    missense variant, c.2617C\u2009&amp;gt;\u2009T p.(Arg873Trp), which has not been previously reported. This case expands the spectrum of\n                    <jats:italic>PLCG1<\/jats:italic>\n                    -associated immune dysregulation and suggests that this variant may contribute to the development of AIHA. This report provides a rationale for functional studies on the role of\n                    <jats:italic>PLCG1<\/jats:italic>\n                    in human disease and immune dysregulation.\n                  <\/jats:p>","DOI":"10.3389\/fped.2026.1884859","type":"journal-article","created":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T05:32:25Z","timestamp":1790314345000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["PLCG1 gene mutation in a child with autoimmune hemolytic anemia: a case report"],"prefix":"10.3389","volume":"14","author":[{"given":"Sarah W.","family":"Alawadhi","sequence":"first","affiliation":[{"name":"Department of Pediatrics, College of Medicine, Health Sciences Center, Kuwait University","place":["Kuwait City, Kuwait"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hessah W.","family":"Alsalem","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine, Health Sciences Center, Kuwait University","place":["Kuwait City, Kuwait"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maysoon","family":"Al Rushood","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine, Health Sciences Center, Kuwait University","place":["Kuwait City, Kuwait"]},{"name":"Pediatric Allergy and Clinical Immunology Unit, Mubarak AL Kabir Hospital","place":["Kuwait City, Kuwait"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,9,25]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"946","DOI":"10.3389\/fimmu\/2020.00946","article-title":"The changing landscape of autoimmune hemolytic anemia","volume":"11","author":"Barcellini","year":"2020","journal-title":"Front Immunol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"3859","DOI":"10.3390\/jcm9123859","article-title":"New insights in autoimmune 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