Author/Authors :
Tafaroji ، Javad Department of Pediatrics - Qom University of Medical Sciences , Salami ، Fereshte Department of Immunology - Yazd University of Medical Sciences , Mahdaviani ، Alireza Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD) - Shahid Beheshti University of Medical Sciences , Shirkani ، Afshin Allergy and Clinical Immunology Department - School of Medicine - Bushehr University of Medical Science , Chavoshzadeh ، zahra Pediatric Infections Research Center, Mofid Children s Hospital - Shahid Beheshti University of Medical Sciences
Abstract :
Background: Lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency is a rare genetic primary immunodeficiency (PID) disease caused by mutation in the LRBA gene. The most important symptoms in patients include autoimmunity, recurrent infections, hypogammaglobulinemia, and enteropathy. Methods: A total of 19 LRBA patients were enrolled in this longitudinal study. All recorded data for clinical presentation, demographic information, laboratory and gastrointestinal findings were collected. Results: In this study, 11 females and 8 males (from 16 unrelated families) with LRBA deficiency were evaluated. The most common gastrointestinal symptoms were gastroenteritis, chronic or bloody diarrhea with abdominal pain, vomiting, anorexia, and FTT. The most important pathologic finding was colitis that was seen in 4 patients. Gastritis, esophagitis, gastroesophageal reflux disease, celiac-like disease, and normal upper endoscopy were documented equally in 2 patients. Also seen was enteritis in 3, proctitis, ileitis, and cryptitis in 1, and villous atrophy in 3 of the LRBA patients. Conclusion: A variety of gastrointestinal conditions may be the most frequent complications in patients with LRBA deficiency.
Keywords :
LRBA deficiency , Primary immunodeficiency , enteropathy , autoimmunity
