{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:23:12Z","timestamp":1788304992386,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,6,19]],"date-time":"2017-06-19T00:00:00Z","timestamp":1497830400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Allergy Immunology"],"published-print":{"date-parts":[[2017,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">LPS<\/jats:styled-content>\u2010responsive beige\u2010like anchor protein (<jats:styled-content style=\"fixed-case\">LRBA<\/jats:styled-content>) deficiency is a combined immunodeficiency caused by mutation in <jats:italic><jats:styled-content style=\"fixed-case\">LRBA<\/jats:styled-content><\/jats:italic> gene. The patients have a variety of clinical symptoms including hypogammaglobulinemia, recurrent infections, autoimmunity, and enteropathy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A total of 17 <jats:styled-content style=\"fixed-case\">LRBA<\/jats:styled-content>\u2010deficient patients were enrolled in this longitudinal study. For all patients, demographic information, clinical records, laboratory, and molecular data were collected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Result<\/jats:title><jats:p>Hypogammaglobulinemia was reported in 14 (82.4%), <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>4<jats:sup>+<\/jats:sup> T\u2010cell deficiency in five (29.4%), <jats:styled-content style=\"fixed-case\">NK<\/jats:styled-content> cell deficiency in three (21.4%), and <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>19<jats:sup>+<\/jats:sup> B\u2010cell deficiency in 11 (64.7%) patients. All patients had history of infectious complications; pneumonia was the most common (76.5%) occurring infection. A history of lymphoproliferative disorders was observed in 14 (82.3%), enteropathy in 13 (76.5%), allergic symptoms in six (35.5%), neurologic problems in four (23.5), and autoimmunity (mostly autoimmune cytopenia) in 13 (76.5%) patients. Sirolimus treatment improved enteropathy of patients with remarkable success. The 20\u2010year overall survival rate declined to 70.6%.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">LRBA<\/jats:styled-content> deficiency has a very broad and variable phenotype and should be considered, especially in children with early\u2010onset hypogammaglobulinemia, severe autoimmune manifestations, enteropathy, lymphoproliferation, and recurrent respiratory tract infections.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pai.12735","type":"journal-article","created":{"date-parts":[[2017,5,17]],"date-time":"2017-05-17T08:06:38Z","timestamp":1495008398000},"page":"478-484","source":"Crossref","is-referenced-by-count":66,"title":["Clinical, immunologic, molecular analyses and outcomes of iranian patients with <scp>LRBA<\/scp> deficiency: A longitudinal study"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5658-2511","authenticated-orcid":false,"given":"Gholamreza","family":"Azizi","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine Imam Hassan Mojtaba Hospital Alborz University of Medical Sciences  Karaj Iran"},{"name":"Research Center for Immunodeficiencies Children's Medical Center Tehran University of Medical Sciences  Tehran Iran"},{"name":"Primary Immunodeficiency Diseases Network (PIDNet) Universal Scientific Education and Research Network (USERN)  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hassan","family":"Abolhassani","sequence":"additional","affiliation":[{"name":"Research Center for Immunodeficiencies Children's Medical Center Tehran University of Medical Sciences  Tehran Iran"},{"name":"Primary Immunodeficiency Diseases Network (PIDNet) Universal Scientific Education and Research Network (USERN)  Tehran 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Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Yazdani","sequence":"additional","affiliation":[{"name":"Research Center for Immunodeficiencies Children's Medical Center Tehran University of Medical Sciences  Tehran Iran"},{"name":"Department of Immunology School of Medicine Isfahan University of Medical Sciences  Isfahan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatemeh","family":"Kiaee","sequence":"additional","affiliation":[{"name":"Research Center for Immunodeficiencies Children's Medical Center Tehran University of Medical Sciences  Tehran Iran"},{"name":"Primary Immunodeficiency Diseases Network (PIDNet) Universal Scientific Education and Research Network (USERN)  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammadreza","family":"Shaghaghi","sequence":"additional","affiliation":[{"name":"Research Center for Immunodeficiencies Children's Medical Center Tehran 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