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Ataxia telangiectasia (AT) requires early diagnosis to prevent infectious diseases and early detection of cancer. We aimed to diagnose patients with SCID\/AT as quickly as possible and link them to the best treatments via the primary immunodeficiency database in Japan (PIDJ) network.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>For 111 patients with suspected combined immunodeficiency, including SCID\/AT, we analyzed T\u2010cell receptor excision circle (TREC) and sequenced 29 causative genes of SCID, including ATM, by ion semiconductor sequencing using multiplex polymerase chain reaction amplicons. In some cases, DNA extracted from dried blood spots was used for the analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Approximately 70.8% of 0\u20131\u2010year\u2010old patients and 26.5% of the patients &gt;2\u2009years old with low TREC were diagnosed genetically, including\n                      <jats:italic>ADA<\/jats:italic>\n                      ,\n                      <jats:italic>ATM<\/jats:italic>\n                      ,\n                      <jats:italic>IL2RG<\/jats:italic>\n                      ,\n                      <jats:italic>IL7R<\/jats:italic>\n                      ,\n                      <jats:italic>JAK3<\/jats:italic>\n                      ,\n                      <jats:italic>RAG1<\/jats:italic>\n                      ,\n                      <jats:italic>RAG2<\/jats:italic>\n                      ,\n                      <jats:italic>DCLRE1C<\/jats:italic>\n                      ,\n                      <jats:italic>NHEJ1<\/jats:italic>\n                      , and\n                      <jats:italic>LIG4<\/jats:italic>\n                      . However, only 6.9% of patients with normal TREC were genetically diagnosed (\n                      <jats:italic>STIM1<\/jats:italic>\n                      and\n                      <jats:italic>ATM<\/jats:italic>\n                      ) in our panel. In Japan, all patients had been genetically diagnosed after infection or other life\u2010threatening conditions, and &gt;80% of patients are linked to appropriate treatment after diagnosis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Target gene sequencing, including SCID and AT genes, was useful for the diagnosis of patients with combined immunodeficiency with low TREC and to lead them to prompt treatment and better prognosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ped.70085","type":"journal-article","created":{"date-parts":[[2025,6,3]],"date-time":"2025-06-03T03:20:22Z","timestamp":1748920822000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Centralized rapid genetic diagnosis of combined immunodeficiency in 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