Polyautoimmunity in Patients with LPS-Responsive Beige-Like Anchor (LRBA) Deficiency

Gholamreza Azizi, Hassan Abolhassani, Majid Zaki-Dizaji, Sima Habibi, Hamed Mohammadi, Mohammadreza Shaghaghi, Reza Yazdani, Juan Manuel Anaya, Nima Rezaei, Lennart Hammarström, Asghar Aghamohammadi

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


Background: Polyautoimmunity is defined as the presence of more than one autoimmune disorder in a single patient. Lipopolysaccharide (LPS)-responsive beige-like anchor (LRBA) deficiency is one of the monogenic causes of polyautoimmunity. The aim of this study was to report the characteristics of polyautoimmunity in patients with LRBA deficiency. Methods: A total of 14 LRBA deficiency patients with confirmed autoimmunity were enrolled in this study. For those patients with polyautoimmunity, demographic information, clinical records, laboratory, and molecular data were collected. We also compared our results with the currently reported patients with LRBA deficiency associated with polyautoimmunity. Results: In 64.2% (9 out of 14) of patients, autoimmunity presented as polyautoimmunity. In these patients, autoimmune cytopenias were the most frequent complication, observed in seven patients. Three patients presented with four different types of autoimmune conditions. The review of the literature showed that 41 of 72 reported LRBA deficient patients (74.5%) had also polyautoimmunity, with a wide spectrum of autoimmune diseases described. Hematopoietic stem cell transplantation is increasingly used as the treatment for patients with severe polyautoimmunity associated to LRBA deficiency. Conclusions: Mutation in LRBA gene is one of the causes of monogenic polyautoimmunity. Awareness of this association is important in order to make an early diagnosis and prompt treatment.

Original languageEnglish (US)
Pages (from-to)457-467
Number of pages11
JournalImmunological Investigations
Issue number5
StatePublished - Jul 4 2018

All Science Journal Classification (ASJC) codes

  • Immunology


Dive into the research topics of 'Polyautoimmunity in Patients with LPS-Responsive Beige-Like Anchor (LRBA) Deficiency'. Together they form a unique fingerprint.

Cite this