{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T01:18:53Z","timestamp":1773364733798,"version":"3.50.1"},"reference-count":14,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,3,23]],"date-time":"2022-03-23T00:00:00Z","timestamp":1647993600000},"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>X-linked lymphoproliferative disease type 1 (XLP1), an X-linked recessive genetic disorder, is associated with primary immunodeficiency. Patients with XLP1 are susceptible to Epstein\u2013Barr virus (EBV) infection. <jats:italic>SH2D1A<\/jats:italic> gene is known as the causative gene. We found a novel hemizygous variant of <jats:italic>SH2D1A<\/jats:italic>, c.162_201+31delinsTACAAGGACATATACA, from a 5-year-old male patient who had been diagnosed with EBV infection and Hodgkin's lymphoma. In targeted next-generation sequencing (NGS), complex variants at exon 2 were not consistently identified with two software programs. They showed a soft-clipped read pattern. The variant had a 71-bp deletion and a 16-bp insertion across exon 2 as confirmed by direct sequencing. As the variant was located within the exon\u2013intron boundary, two aberrant transcripts were shown by RNA study. Although NGS method has a limitation in detecting large deletion\/duplication variants, proper bioinformatics pipeline and careful review of data might enable the detection of complex variants.<\/jats:p>","DOI":"10.3389\/fped.2022.812590","type":"journal-article","created":{"date-parts":[[2022,3,28]],"date-time":"2022-03-28T22:23:26Z","timestamp":1648506206000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1"],"prefix":"10.3389","volume":"10","author":[{"given":"Won Kyung","family":"Kwon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jee 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