Clinical, immunologic, molecular analyses and outcomes of iranian patients with <scp>LRBA</scp> deficiency: A longitudinal study

<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p><jats:styled-content style="fixed-case">LPS</jats:styled-content>‐responsive beige‐like 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>‐deficient 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‐cell 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‐cell 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‐year 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‐onset hypogammaglobulinemia, severe autoimmune manifestations, enteropathy, lymphoproliferation, and recurrent respiratory tract infections.</jats:p></jats:sec>