LPS-responsive beige-like anchor gene mutation associated with possible bronchiolitis obliterans organizing pneumonia associated with hypogammaglobulinemia and normal IgM phenotype and low number of B

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. © 2016 tehran university of medical sciences. all rights reserved.