Joint Involvement in Patients with LPS-Responsive and Beige-Like Anchor Protein (LRBA) Deficiency: A Case Report and Literature Review

Seyed Erfan Rasouli; Niusha Sharifinejad; Mazdak Fallahi; Seyedeh Atefeh  Hashemi Moghaddam; Mahnaz Jamee; Mahsa Rekabi; Zahra Daneshmand; Seyed Alireza Mahdaviani; Ali Akbar Velayati

doi:10.18502/igj.v4i1.8396

Seyed Erfan Rasouli Student Research Committee, Alborz University of Medical Sciences, Karaj, Iran
Niusha Sharifinejad Student Research Committee, Alborz University of Medical Sciences, Karaj, Iran
Mazdak Fallahi Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran
Seyedeh Atefeh Hashemi Moghaddam Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran
Mahnaz Jamee Pediatric Nephrology Research Center, Research Institude for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Mahsa Rekabi Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran
Zahra Daneshmand Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran
Seyed Alireza Mahdaviani Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran
Ali Akbar Velayati Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran

DOI: https://doi.org/10.18502/igj.v4i1.8396

Keywords: LRBA Deficiency; Joint Involvement; Rheumatoid Arthritis; Inborn Error of Immunity; Juvenile Idiopathic Arthritis

Abstract

Background: Lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency is an inborn error of immunity characterized by a heterogeneous spectrum of manifestations, including enteropathy, immune dysregulation, and autoimmune disorder. Joint involvement has been less frequently reported, and limited data regarding its clinical presentation in LRBA deficiency has been published.

Case presentation and review results: We reported an Iranian girl who was initially presented with recurrent respiratory tract infections and otitis media, later complicated by arthritis, growth failure, and organomegaly. The diagnosis of LRBA deficiency was confirmed by the identification of a novel homozygous missense variant in the LRBA gene (c.7742T>A, p.M2581K). Along with this report, a literature review focused on joint involvement, on 26 patients with LRBA deficiency was performed.

Conclusion: Non-infectious manifestations such as joint involvement have a broad spectrum in LRBA deficiency. For the timely diagnosis and appropriate clinical management, LRBA deficiency should always be kept in mind as a differential diagnosis in patients with joint involvement and clinically typical immune dysregulation.