{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T06:47:24Z","timestamp":1776840444550,"version":"3.51.2"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T00:00:00Z","timestamp":1776816000000},"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:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      X-linked severe combined immunodeficiency (X-SCID), caused by mutations in the gamma-chain gene of the interleukin-2 receptor (\n                      <jats:italic>IL2RG<\/jats:italic>\n                      ), is a prevalent form of SCID characterized by recurrent and fatal opportunistic infections that occur early in life.\n                      <jats:italic>Talaromyces marneffei<\/jats:italic>\n                      (\n                      <jats:italic>T. marneffei<\/jats:italic>\n                      ) infection rarely occurs in children and has a high mortality rate.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      The patient was a 7-month-old male infant who presented with recurrent cough, fever, and hepatosplenomegaly. Lymphocyte subset analysis confirmed the presence of T-B\u2009+\u2009natural killer immunodeficiency, and blood culture was positive for\n                      <jats:italic>T. marneffei.<\/jats:italic>\n                      Whole-exome sequencing revealed a novel microdeletion insertion mutation (c.818_819delins A (p. Ile273Lys fsTer21) in\n                      <jats:italic>IL2RG<\/jats:italic>\n                      , resulting in a rare shift in the amino acid sequence of the coding protein. The child was diagnosed with X-SCID due to a novel\n                      <jats:italic>IL2RG<\/jats:italic>\n                      mutation, which was further complicated by\n                      <jats:italic>T. marneffei<\/jats:italic>\n                      infection. Despite receiving systemic anti-infection treatment, the patient died 3 days after discharge. To the best of our knowledge, this novel\n                      <jats:italic>IL2RG<\/jats:italic>\n                      mutation has not been reported previously.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      For early-onset\n                      <jats:italic>T. marneffei<\/jats:italic>\n                      infection, clinicians must maintain a high index of suspicion for underlying inborn errors of immunity, and definitive diagnosis hinges on genetic testing.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fped.2026.1769503","type":"journal-article","created":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T05:49:33Z","timestamp":1776836973000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report and literature 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