{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T11:46:00Z","timestamp":1753875960501,"version":"3.41.2"},"reference-count":22,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100005088","name":"Beijing Municipal Health Commission","doi-asserted-by":"publisher","award":["2021-9"],"award-info":[{"award-number":["2021-9"]}],"id":[{"id":"10.13039\/501100005088","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Leukocyte adhesion deficiency I (LAD-I) is an autosomal recessive immunodeficiency caused by mutations in the ITGB2 gene, characterized by recurrent severe infections, impaired pus formation, and delayed wound healing. In this study, we describe a late-onset presentation of LAD-I in a 22-year-old male who initially exhibited marked leukocytosis and neonatal omphalitis, followed by recurrent upper respiratory tract infections from 9 months of age. At age 13, the patient developed abdominal and left iliac fossa abscesses, which progressed to a vesicocutaneous fistula after a prolonged febrile episode. Extended catheterization and antibiotic treatment led to the formation of characteristic tin foil-like scarring. Recurrent purulent skin and soft tissue infections led to widespread scarring and pigmentary changes. Next-generation sequencing (NGS) identified a novel homozygous splice-site mutation in ITGB2 (NM_000211.5, c.1225-1G\u2005&amp;gt;\u2005A, IVS10-1G\u2005&amp;gt;\u2005A). In silico analysis predicted disruption of the acceptor site, while a minigene assay demonstrated two aberrant splicing events, namely a 12-bp deletion and complete skipping of exon 11 (188\u00a0bp). Flow cytometry analysis at age 13 showed CD18 expression reduced to less than 1% across granulocytes, monocytes, and lymphocytes, with concomitant decreases in \u03b22-integrin \u03b1 subunits (CD11a, CD11b, and CD11c). At 15 years of age, the patient underwent hematopoietic stem cell transplantation (HSCT) from a fully HLA-matched (10\/10) heterozygous sister donor following a modified myeloablative conditioning regimen. Although initial chimerism fluctuated, full donor chimerism was ultimately achieved, restoring CD18 expression and normalizing \u0251-integrin levels. This study highlights the therapeutic efficacy of HSCT in correcting the molecular defects associated with LAD-I.<\/jats:p>","DOI":"10.1093\/cei\/uxaf024","type":"journal-article","created":{"date-parts":[[2025,6,27]],"date-time":"2025-06-27T15:14:06Z","timestamp":1751037246000},"source":"Crossref","is-referenced-by-count":0,"title":["An atypical adolescent case of leukocyte adhesion deficiency I caused by a novel <i>ITGB2<\/i> splicing variant with successful immune reconstitution following hematopoietic stem cell transplantation"],"prefix":"10.1093","volume":"219","author":[{"given":"Guanghua","family":"Zhu","sequence":"first","affiliation":[{"name":"Department of Hematopoietic Stem Cell Transplantation, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health , Beijing,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Honghong","family":"Yue","sequence":"additional","affiliation":[{"name":"Deparment of Allergy, The First Hospital Affiliated to Tsinghua University , Beijing,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianxin","family":"He","sequence":"additional","affiliation":[{"name":"Department of Pulmonology, Beijing Children\u2019s Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children\u2019s Health , Beijing,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caisheng","family":"Wang","sequence":"additional","affiliation":[{"name":"Diagnosis and Treatment Center of Gastroenterology and Hepatology, Inner Mongolia Xilinguo League Central Hospital , Xilinhot,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Xu","sequence":"additional","affiliation":[{"name":"Center of Clinical Laboratory, Inner Mongolia Xilinguo League Central Hospital , Xilinhot,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chenguang","family":"Jia","sequence":"additional","affiliation":[{"name":"Department of Hematopoietic Stem Cell Transplantation, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health , Beijing,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaolin","family":"Wang","sequence":"additional","affiliation":[{"name":"Laboratory of Tumor Immunology, Beijing Pediatric Research Institute, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health , Beijing,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Hematopoietic Stem Cell Transplantation, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health , Beijing,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bin","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Hematopoietic Stem Cell Transplantation, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health , Beijing,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Zhang","sequence":"additional","affiliation":[{"name":"Laboratory of Tumor Immunology, Beijing Pediatric Research Institute, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health , Beijing,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xi","family":"Chen","sequence":"additional","affiliation":[{"name":"Laboratory of Tumor Immunology, Beijing Pediatric Research Institute, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health , Beijing,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianping","family":"Qiu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, People\u2019s Hospital of Xunwu County , Xunwu,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liwei","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Pulmonology, Beijing Children\u2019s Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children\u2019s Health , Beijing,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Hematopoietic Stem Cell Transplantation, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health , Beijing,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ge","family":"Lv","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Center, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health , Beijing,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Hematopoietic Stem Cell Transplantation, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health , Beijing,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanhui","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Hematopoietic Stem Cell Transplantation, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health , Beijing,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maoquan","family":"Qin","sequence":"additional","affiliation":[{"name":"Department of Hematopoietic Stem Cell Transplantation, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health , 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