{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T04:11:41Z","timestamp":1777349501615,"version":"3.51.4"},"reference-count":0,"publisher":"Knowledge E DMCC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJAAI"],"abstract":"<jats:p>LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency caused by a mutation in the LRBA gene. Affected individuals present with a variety of clinical symptoms including hypogammaglobulinemia, recurrent infections, splenomegaly, hepatomegaly, and autoimmune cytopenias. Except for hypogammaglobulinemia, the remaining features resemble autoimmune lymphoproliferative syndrome (ALPS). Here, we report the case of a 14-year-old boy with the ALPS phenotype, eventually diagnosed with LRBA deficiency. He presented with lymphadenopathy and hepatosplenomegaly, along with autoimmune cytopenia. Due to recurrent infections and worsening gastrointestinal symptoms, whole-exome sequencing was conducted and revealed a novel homozygous pathogenic variant in the LRBA gene (c.534del; p.9Asp179IIef*16). The patient recently suffered from clinical deterioration due to SARS-COV-2 which appears to have triggered an acute worsening of his existing Cytomegalovirus colitis leading to an eventual demise. A literature search for reported LRBA deficient patients with ALPS-like phenotype revealed 11 patients. The most common clinical presentations in LRBA patients with ALPS-like phenotype included autoimmunity (100%), splenomegaly (91%), lymphadenopathy (36.4%), and respiratory tract infections (63.6%). LRBA deficiency is unique in the fact that it encompasses immune deficiency, autoimmunity, and lymphoproliferation. In children with multiple symptoms related to these domains, a genetic diagnosis is necessary to ensure tailored and precise medical therapy.<\/jats:p>","DOI":"10.18502\/ijaai.v21i2.9230","type":"journal-article","created":{"date-parts":[[2022,4,19]],"date-time":"2022-04-19T07:27:44Z","timestamp":1650353264000},"source":"Crossref","is-referenced-by-count":4,"title":["Lipopolysaccharide Responsive Beige-like Anchor Protein Deficiency in a Patient with Autoimmune Lymphoproliferative Syndrome-like Disease Phenotype: A Case Report and Literature Review"],"prefix":"10.18502","author":[{"given":"Saja","family":"Fetyan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nida Fatima","family":"Sakrani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fawwaz","family":"Yassin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad Fahad","family":"Abdallah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naser","family":"Elzein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gholamreza","family":"Azizi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gehad","family":"ElGhazali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7770","published-online":{"date-parts":[[2022,4,17]]},"container-title":["Iranian Journal of Allergy, Asthma and Immunology"],"original-title":[],"deposited":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T16:57:01Z","timestamp":1734454621000},"score":1,"resource":{"primary":{"URL":"https:\/\/publish.kne-publishing.com\/index.php\/IJAAI\/article\/view\/9230"},"secondary":[{"URL":"https:\/\/ijaai.tums.ac.ir\/index.php\/ijaai\/article\/view\/3296","label":"UNIVERSITY"},{"URL":"https:\/\/publish.kne-publishing.com\/index.php\/IJAAI\/article\/view\/9230","label":"PUBLISHER"}]},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,17]]},"references-count":0,"URL":"https:\/\/doi.org\/10.18502\/ijaai.v21i2.9230","relation":{},"ISSN":["1735-5249","1735-1502"],"issn-type":[{"value":"1735-5249","type":"electronic"},{"value":"1735-1502","type":"print"}],"subject":[],"published":{"date-parts":[[2022,4,17]]}}}