{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T08:08:13Z","timestamp":1753862893229,"version":"3.41.2"},"reference-count":28,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,8,16]],"date-time":"2023-08-16T00:00:00Z","timestamp":1692144000000},"content-version":"vor","delay-in-days":15,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:sec><jats:title>Key Clinical Message<\/jats:title><jats:p>Partial leukocyte adhesion deficiency type 1 (LAD\u20101) deficiency is extremely rare condition with milder infectious manifestation and immune system imbalance leads to increased risks of autoinflammatory complications, such as pyoderma gangrenosum, that can be triggered by trauma or pregnancy. In patients with spice\u2010site ITGB2 variants, partial expression can occur due to different \u03b22 integrin isophorms expression.<\/jats:p><\/jats:sec><jats:sec><jats:title>Abstract<\/jats:title><jats:p>LAD\u20101, OMIM ID #116920 is a rare, autosomal recessive disorder that results from mutations in the <jats:italic>ITGB2<\/jats:italic> gene that encodes the CD18 \u03b22 integrin subunit. According to the CD18 expression, LAD\u20101 is categorized as severe (&lt;2%), moderate (2%\u201330%), or mild (&gt;30%). Here, we describe a 22\u2010year\u2010old female, who presented with inflammatory skin disease and oral cavity, as well as respiratory tract infections during the first year of life. LAD\u20101 was diagnosed at the age of 2\u2009years by low expression of CD18 (1%). Whole\u2010exome sequencing identified homozygous c. 59\u201010C&gt;A variant in the <jats:italic>ITGB2<\/jats:italic> gene. Despite severe phenotype, the patient survived to adulthood without hematopoietic stem cell transplantation and became pregnant at the age of 20\u2009years, with pregnancy complicated by a pyoderma gangrenosum\u2010like lesion. During her life, CD18 expression increased from 1% to 9%; at 22\u2009years of age, 5% of neutrophils and 9% of lymphocytes were CD18<jats:sup>+<\/jats:sup>. All CD18<jats:sup>+<\/jats:sup>\u2010lymphocytes were predominantly memory\/effector cytotoxic T cells. However, revertant mosaicism was not being established suggesting that CD18 expression variability may be mediated by other mechanisms such as different \u03b22 integrin isophorms expression.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ccr3.7791","type":"journal-article","created":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T21:28:31Z","timestamp":1692566911000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Variable CD18 expression in a 22\u2010year\u2010old female with leukocyte adhesion deficiency I: Clinical case and literature review"],"prefix":"10.1002","volume":"11","author":[{"given":"Anastasiia V.","family":"Bondarenko","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Immunology, Infectious and Rare Diseases, European Medical School International European University  Kyiv Ukraine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oksana R.","family":"Boyarchuk","sequence":"additional","affiliation":[{"name":"Department of Children's Diseases and Pediatric Surgery I. Horbachevsky Ternopil National Medical University  Ternopil Ukraine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inga S.","family":"Sakovich","sequence":"additional","affiliation":[{"name":"Research Department Belarusian Research Center for Pediatric Oncology, Hematology and Immunology  Minsk Belarus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0706-6622","authenticated-orcid":false,"given":"Ekaterina A.","family":"Polyakova","sequence":"additional","affiliation":[{"name":"Research Department Belarusian Research Center for Pediatric Oncology, Hematology and Immunology  Minsk Belarus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander A.","family":"Migas","sequence":"additional","affiliation":[{"name":"Research Department Belarusian Research Center for Pediatric Oncology, Hematology and Immunology  Minsk Belarus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandra N.","family":"Kupchinskaya","sequence":"additional","affiliation":[{"name":"Research Department Belarusian Research Center for Pediatric Oncology, Hematology and Immunology  Minsk Belarus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandra","family":"Opalinska","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Institute of Medical Sciences Medical College of Rzeszow University  Rzeszow Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Reich","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Institute of Medical Sciences Medical College of Rzeszow University  Rzeszow Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liubov","family":"Volianska","sequence":"additional","affiliation":[{"name":"Department of Children's Diseases and Pediatric Surgery I. 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