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One patient was an adolescent with recurrent cytopenias and frank immunodeficiency that evolved into bone marrow failure with myelodysplasia, then chronic myelomonocytic leukemia and ultimately treatment\u2010refractory acute myeloid leukemia. The second patient was a preadolescent with only cytopenias. In both cases, diagnosis was not achieved by sending an inherited BMF syndrome panel because of the omission of <jats:italic>NHEJ1<\/jats:italic>. Our cases further emphasize that NHEJ1 deficiency harbors additionally under\u2010recognized hematopoietic implications beyond lymphoid abnormalities, adding to the emerging evidence for coexistent myeloid and lymphoid concerns in GMDs.<\/jats:p>","DOI":"10.1002\/pbc.31884","type":"journal-article","created":{"date-parts":[[2025,6,28]],"date-time":"2025-06-28T06:05:03Z","timestamp":1751090703000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["NHEJ1 Splice Variants Associated With Bone Marrow Failure and Hematologic Malignancy"],"prefix":"10.1002","volume":"72","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9065-4176","authenticated-orcid":false,"given":"Nadav I.","family":"Weinstock","sequence":"first","affiliation":[{"name":"Department of Genetic Medicine Johns Hopkins Hospital  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolyn","family":"Applegate","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Johns Hopkins Hospital  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Peng","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Hematology and Oncology Johns Hopkins Hospital  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Keates\u2010Baleeiro","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Hematology and Oncology Johns Hopkins Hospital  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chris","family":"Gamper","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Hematology and Oncology Johns Hopkins Hospital  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7738-1150","authenticated-orcid":false,"given":"Xiao P.","family":"Peng","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Johns Hopkins Hospital  Baltimore Maryland USA"},{"name":"Department of Pediatrics Division of Medical Genetics Montefiore Medical Center\/Albert Einstein College of Medicine  New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,6,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.883173"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1990"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.570084"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12026\u2010012\u20108329\u2010z"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx098"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2023.104840"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2018.02959"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/cpz1.530"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41594\u2010023\u201001015\u20106"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1098\/rsob.240293"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg830"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277\u2010025\u201006257\u20106"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2019000901"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2024.10.023"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2017.02.036"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaip.2020.08.008"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.57"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2022.08.003"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2024.19662"}],"container-title":["Pediatric Blood &amp; 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