{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T02:41:24Z","timestamp":1780108884301,"version":"3.54.0"},"reference-count":61,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T00:00:00Z","timestamp":1770768000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T00:00:00Z","timestamp":1770768000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Poikiloderma with neutropenia (PN) is a rare autosomal recessive disorder characterized by poikiloderma, neutropenia, and recurrent infections. We present a patient with PN carrying a novel homozygous pathogenic variant in the\n                    <jats:italic>USB1<\/jats:italic>\n                    gene (c.547delC, p.Leu183Trpfs82*), and reviewed 90 PN cases reported since 1991 (including one new case) in order to assess genotype\u2013phenotype correlations. Early symptoms included erythematous rash and recurrent infections (44% and 27% at 6\u2009months, respectively), poikiloderma (88% at 12\u2009months), and hepatosplenomegaly or elevated liver enzymes (22% at 12\u2009months). Photosensitivity (21%) had a median onset at 21\u2009months. Nail dystrophy and palmoplantar hyperkeratosis emerged later (36\u201348\u2009months). Growth delay occurred in 53%, and 54% showed dental anomalies such as caries, hypodontia, or peg\u2010shaped teeth. Notably, 17% developed malignancies\u2014four non\u2010melanoma skin cancers and 11 hematologic malignancies (AML, MDS, or pre\u2010MDS), highlighting a significant oncogenic risk. Genetic analysis revealed 34 different pathogenic variants in the\n                    <jats:italic>USB1<\/jats:italic>\n                    gene. Our findings underscore the importance of early recognition and long\u2010term cancer surveillance in PN patients and provide a foundation for further research into\n                    <jats:italic>USB1<\/jats:italic>\n                    's role and the disorder's progression.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70082","type":"journal-article","created":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T07:38:18Z","timestamp":1770881898000},"page":"1315-1325","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Insights Into Poikiloderma With Neutropenia: Genotypic and Phenotypic Analysis of 90 Cases With a New Case Report"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0269-3552","authenticated-orcid":false,"given":"Mareike","family":"Becker","sequence":"first","affiliation":[{"name":"Department of Pediatric Dermatology Catholic Children's Hospital Wilhelmstift  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa M.","family":"Koehler","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dermatology Catholic Children's Hospital Wilhelmstift  Hamburg Germany"},{"name":"Department of Pediatrics Catholic Children's Hospital Wilhelmstift  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3268-7479","authenticated-orcid":false,"given":"Peter H.","family":"Hoeger","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dermatology Catholic Children's Hospital Wilhelmstift  Hamburg Germany"},{"name":"Department of Pediatrics Catholic Children's Hospital Wilhelmstift  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,2,11]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.18502\/ijaai.v18i4.1424"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875\u2010017\u20100385\u20107"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.06.011"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875\u2010020\u201000815\u20105"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdcr.2023.08.045"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1742\u2010481X.2010.00734.x"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102133.2010.09929.x"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010025\u201063234\u20103"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.15970"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875\u2010021\u201000998\u20105"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61943"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525\u20101470.2011.01513.x"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13256\u2010025\u201005027\u20102"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.17206"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33807"},{"issue":"4","key":"e_1_2_12_17_1","first-page":"131","article-title":"Immune Deficient Poikiloderma: A New Genodermatosis","volume":"49","author":"Clericuzio C.","year":"1991","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20107\u20107"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875\u2010018\u20100508\u20109"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33600"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.05.007"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000452082"},{"key":"e_1_2_12_23_1","unstructured":"Dale D. C. andV.Makaryan. n.d.ELANE\u2010Related Neutropenia. InGeneReviews [Internet](Last Update: August 23 2018)."},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e31829f35e7"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098\u2010020\u201003502\u2010w"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010022\u201031686\u20106"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14125"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdcr.2017.01.002"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.13645"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102012\u201010\u2010461491"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.15133"},{"key":"e_1_2_12_32_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.abj8379"},{"key":"e_1_2_12_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36683"},{"key":"e_1_2_12_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.14811"},{"key":"e_1_2_12_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2009.10.013"},{"key":"e_1_2_12_36_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.19184"},{"key":"e_1_2_12_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010025\u201057757\u2010y"},{"key":"e_1_2_12_38_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.1999.14.5.834"},{"key":"e_1_2_12_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32524"},{"key":"e_1_2_12_40_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.19128"},{"key":"e_1_2_12_41_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/keaa236"},{"issue":"3","key":"e_1_2_12_42_1","first-page":"331","article-title":"Clericuzio\u2010Type Poikiloderma With Neutropenia Syndrome in a Turkish Family: A Three Report of Siblings With Mutation in the C16orf57 Gene","volume":"14","author":"Patiroglu T.","year":"2015","journal-title":"Iranian Journal of Allergy, Asthma, and Immunology"},{"key":"e_1_2_12_43_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.15007"},{"key":"e_1_2_12_44_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1525\u20101470.2001.01971.x"},{"key":"e_1_2_12_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.07.004"},{"key":"e_1_2_12_46_1","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2021.680363"},{"key":"e_1_2_12_47_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365\u20102230.1999.00530.x"},{"key":"e_1_2_12_48_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.15498"},{"key":"e_1_2_12_49_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12016"},{"key":"e_1_2_12_50_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.27262"},{"key":"e_1_2_12_51_1","doi-asserted-by":"publisher","DOI":"10.1002\/pro.70155"},{"key":"e_1_2_12_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.209"},{"key":"e_1_2_12_53_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000332"},{"key":"e_1_2_12_54_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33455"},{"key":"e_1_2_12_55_1","doi-asserted-by":"publisher","DOI":"10.1089\/ped.2024.0071"},{"key":"e_1_2_12_56_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2021.05.002"},{"key":"e_1_2_12_57_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30430"},{"key":"e_1_2_12_58_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.11.014"},{"key":"e_1_2_12_59_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2016.147769"},{"key":"e_1_2_12_60_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq371"},{"key":"e_1_2_12_61_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10057"},{"key":"e_1_2_12_62_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346\u20108138.16782"}],"updated-by":[{"DOI":"10.1002\/ajmg.a.70194","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T00:00:00Z","timestamp":1779667200000}}],"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.70082","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.70082","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70082","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T07:10:08Z","timestamp":1779779408000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.70082"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,11]]},"references-count":61,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1002\/ajmg.a.70082"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.70082","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,11]]},"assertion":[{"value":"2025-09-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}