Tehran University of Medical Sciences Acta Medica Iranica 0044-6025 54 10 2016 11 19 620 623 EN Sima Shokri Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Mohammad Nabavi Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Tatjana Hirschmugl CeMM Research Center for Molecular Medicine, Austrian Academy of Sciences, Vienna, Austria. Asghar Aghamohammadi Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Saba Arshi Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Mohamad Hassan Bemanian Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Morteza Fallahpour Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Rasool Molatefi Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Mahsa Rekabi Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Narges Eslami Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Javad Ahmadian Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Kian Darabi Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Gholam Reza Sedighi Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Maryam Monajemzadeh Pediatrics Center for Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Mohammadreza Modaresi Pediatrics Center for Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. AND Pediatric Respiratory Diseases Education and Research Network (PRDERN), Universal Scientific Education and Research Network (USERN), Tehran, Iran. Nima Parvaneh Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Kaan Boztug CeMM Research Center for Molecular Medicine, Austrian Academy of Sciences, Vienna, Austria. AND Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria. Nima Rezaei Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. AND Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. AND Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Boston, MA, USA. 2016 07 13 2016 07 28 LPS-Responsive Beige-like Anchor (LRBA) deficiency is a disease which has recently been described in a group of patients with common variable immunodeficiency (CVID) in association with autoimmunity and/or inflammatory bowel disease (IBD)-like phenotype. We here describe a 10-year-old boy who experienced recurrent infections, mainly in the respiratory system, associated with thrombocytopenia and anemia. Immunological workup showed low numbers of B cells and low IgG, but normal IgM levels. In spite of therapeutic doses of antibiotics, antivirals, and antifungal agents, in addition to immunoglobulin replacement therapy, he developed disseminated involvement of both lungs with peripheral nodules; transbronchial lung biopsy revealed possible bronchiolitis obliterans organizing pneumonia (BOOP). Combined homozygosity mapping and exome sequencing identified a homozygous LRBA mutation in this patient (p.Asp248Glufs*2). Such clinical and immunological findings have not been described to date and illustrate the broad and variable clinical phenotype of human LRBA deficiency. https://acta.tums.ac.ir/index.php/acta/article/view/5773 https://acta.tums.ac.ir/index.php/acta/article/download/5773/4844