{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T06:32:17Z","timestamp":1764311537929,"version":"3.46.0"},"reference-count":17,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T00:00:00Z","timestamp":1764288000000},"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. Immunol."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      PU.1 deficiency, also known as Autosomal Dominant Agammaglobulinemia-10 (AGM10), is a rare primary immunodeficiency caused by mutations in the\n                      <jats:italic>SPI1<\/jats:italic>\n                      gene, leading to B cell deficiency and hypogammaglobulinemia. To date, human cases of\n                      <jats:italic>SPI1<\/jats:italic>\n                      -related immunodeficiency have been reported in only a limited number of publications, highlighting the scarcity of clinical data and the importance of further characterization.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case description<\/jats:title>\n                    <jats:p>\n                      We describe a Chinese patient with recurrent respiratory infections, agammaglobulinemia, and profound B cell lymphopenia. Initial genetic screening using a targeted Primary Immunodeficiency Panel did not identify any related pathogenic variants. Subsequent whole-exome sequencing revealed a novel\n                      <jats:italic>de novo<\/jats:italic>\n                      nonsense mutation in the\n                      <jats:italic>SPI1<\/jats:italic>\n                      gene(NM_003120.3:c.130G&amp;gt;T, p.Glu44Ter). The patient subsequently underwent hematopoietic stem cell transplantation (HSCT). Immunological recovery progressed favorably, with B-cell reconstitution and normalization of immunoglobulin levels occurring by approximately 10 months post-HSCT. However, the clinical course was complicated by severe viral meningoencephalitis occurring around two months post-HSCT, which presented as recurrent fever. Cerebrospinal fluid analysis confirmed infection with cytomegalovirus (CMV) and torque teno virus (TTV). This infection resulted in progressive neurological deterioration and permanent paralysis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We report the first Chinese case of PU.1 deficiency caused by a novel\n                      <jats:italic>SPI1<\/jats:italic>\n                      mutation. Our finding reinforces the need to include SPI1 in diagnostic panels for agammaglobulinemia. Moreover, the severe viral meningoencephalitis after HSCT, despite immune reconstitution, underscores the critical need for aggressive peri-transplant surveillance.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fimmu.2025.1716208","type":"journal-article","created":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T06:28:02Z","timestamp":1764311282000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: A novel de novo SPI1 mutation identified in a Chinese patient with 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