{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T16:44:33Z","timestamp":1776271473644,"version":"3.50.1"},"reference-count":48,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,1,4]],"date-time":"2019-01-04T00:00:00Z","timestamp":1546560000000},"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":["Eur J Clin Investigation"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Leucocyte adhesion deficiency (LAD) is a rare, innate autosomal recessive immunodeficiency with three subtypes. Twenty\u2010nine patients with LADs were diagnosed and treated in Israeli Medical Centers and in the Palestinian Authority. We discuss the phenotypic, genotypic and biochemical features of LAD\u2010I, LAD\u2010II and LAD\u2010III diagnosed during the neonatal period and early infancy in 18, 6 and 5 patients, respectively. Consanguinity was frequent. Common features were severe infections of variable aetiology, excessive leukocytosis and delayed umbilical cord detachment. In LAD\u2010I, the integrin CD18 expression varied from negligible to normal. However, CD11a expression was negligible in all tested patients, suggesting both CD11a and CD18 should be used to assess this subtype. LAD\u2010II patients showed distinctive facial features, physical malformations, short stature and developmental delay. These patients show defective expression of SLeX (CD15a) on cell surface glycoproteins and lack of H antigen on erythroid cell surfaces resulting in Bombay blood group (hh). LAD\u2010III showed intact but inactive \u03b2<jats:sub>2<\/jats:sub> integrins associated with severe infections and significant bleeding disorders caused by defective platelet aggregation and thrombocytopenia. We report four patients with two new unpublished mutations: two LAD\u2010I patients with c.1099delG in <jats:italic>ITGB2<\/jats:italic> and two LAD\u2010III patients with c.1069C&gt;T in <jats:italic>FERMT3<\/jats:italic>. LAD\u2010I patients harbouring the c.119_128 deletion in <jats:italic>ITGB2<\/jats:italic> seemed to have better outcomes as compared to other LAD\u2010I patients. Eight patients with LAD\u2010I and \u2010III underwent successful haematopoietic stem cell transplantation. Cumulative survival was 75%, 50% and 40% for LAD\u2010I, LAD\u2010II and LAD\u2010III, with a median follow\u2010up of 4 (0.08\u201019), 3.25 (1\u201032) and 6 (0.08\u20108) years, respectively. Prenatal diagnosis is recommended in families with LAD syndromes.<\/jats:p>","DOI":"10.1111\/eci.13047","type":"journal-article","created":{"date-parts":[[2018,11,9]],"date-time":"2018-11-09T18:13:59Z","timestamp":1541787239000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":62,"title":["Leucocyte adhesion deficiency\u2014A multicentre national experience"],"prefix":"10.1111","volume":"49","author":[{"given":"Baruch","family":"Wolach","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Laboratory for Leukocyte Function Meir Medical Center Kfar Saba Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8708-9647","authenticated-orcid":false,"given":"Ronit","family":"Gavrieli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Laboratory for Leukocyte Function Meir Medical Center Kfar Saba Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ofir","family":"Wolach","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"},{"name":"Institute of Hematology, Davidoff Cancer Center, Rabin Medical Center Petach Tikva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tal","family":"Stauber","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"},{"name":"Immunology Service, Department of Pediatrics Safra Children\u2019s Hospital, Sheba Medical Center Tel Hashomer Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Omar","family":"Abuzaitoun","sequence":"additional","affiliation":[{"name":"Ambulatory Pediatrics Nablus Palestinian 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