{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:55:43Z","timestamp":1791230143576,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,2,23]],"date-time":"2023-02-23T00:00:00Z","timestamp":1677110400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Severe congenital neutropenia (SCN) is a rare disorder, often due to pathogenic variants in genes such as <jats:italic>ELANE<\/jats:italic>, <jats:italic>HAX1<\/jats:italic>, and <jats:italic>SBDS<\/jats:italic>. <jats:italic>SRP54<\/jats:italic> pathogenic variants are associated with SCN and Shwachman\u2010Diamond\u2010like syndrome. Thirty\u2010eight patients with <jats:italic>SRP54<\/jats:italic>\u2010related SCN are reported in the literature. We present an infant with SCN, without classic Shwachman\u2010Diamond syndrome features, who presented with recurrent bacterial infections and an <jats:italic>SRP54<\/jats:italic> (c.349_351del) pathogenic variant. Despite ongoing granulocyte colony\u2010stimulating factor therapy, this patient has no evidence of malignant transformation. Here we establish a framework for the future development of universal guidelines to care for this patient population.<\/jats:p>","DOI":"10.1002\/ajmg.a.63156","type":"journal-article","created":{"date-parts":[[2023,2,23]],"date-time":"2023-02-23T13:56:41Z","timestamp":1677160601000},"page":"1434-1441","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Severe congenital neutropenia, <i>SRP54<\/i> pathogenicity, and a framework for surveillance"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0414-9123","authenticated-orcid":false,"given":"Elaine M.","family":"Fan","sequence":"first","affiliation":[{"name":"Pediatric Hematology\u2010Oncology University of Utah and Primary Children's Hospital  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennie","family":"Vagher","sequence":"additional","affiliation":[{"name":"Huntsman Cancer Institute University of Utah  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica A.","family":"Meznarich","sequence":"additional","affiliation":[{"name":"Pediatric Hematology\u2010Oncology University of Utah and Primary Children's Hospital  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin Morales","family":"Ubico","sequence":"additional","affiliation":[{"name":"Pediatric Immunology and Hematopoietic Stem Cell Transplant University of Utah and Primary Children's Hospital  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sasidhar","family":"Goteti","sequence":"additional","affiliation":[{"name":"Pediatric Hematology\u2010Oncology University of Utah and Primary Children's Hospital  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Peterson","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Utah and ARUP Laboratories  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad","family":"Rayes","sequence":"additional","affiliation":[{"name":"Pediatric Immunology and Hematopoietic Stem Cell Transplant University of Utah and Primary Children's Hospital  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8739-9100","authenticated-orcid":false,"given":"Luke D.","family":"Maese","sequence":"additional","affiliation":[{"name":"Pediatric Hematology\u2010Oncology University of Utah and Primary Children's Hospital  Salt Lake City Utah USA"},{"name":"Huntsman Cancer Institute University of Utah  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,2,23]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2017-12-820308"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1062"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2009.01.007"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.18334"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI92876"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-018-0518-7"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2019.12.041"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V96.7.2317"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.14887"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2012.11.003"},{"issue":"1","key":"e_1_2_8_12_1","first-page":"45","article-title":"Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group","volume":"90","author":"Donadieu J.","year":"2005","journal-title":"Haematologica"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2022.975017"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70332-X"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.28237"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2020.09.008"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-11-4371"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.29648"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.17853"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2018.04.006"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35211"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-11-4370"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2010.08216.x"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/jha2.413"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.16585"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(64)80150-5"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-11-538025"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104366"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-021-04518-8"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.05.002"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2009.07888.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63156","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.63156","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63156","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T03:40:06Z","timestamp":1697082006000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63156"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,23]]},"references-count":30,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["10.1002\/ajmg.a.63156"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63156","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2,23]]},"assertion":[{"value":"2022-10-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}