title: 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 Cells.
abstract: 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.
authors.affiliation: Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Sima
authors.initials: S
authors.lastname: Shokri
authors.affiliation: Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Nabavi
authors.affiliation: CeMM Research Center for Molecular Medicine, Austrian Academy of Sciences, Vienna, Austria.
authors.forename: Tatjana
authors.initials: T
authors.lastname: Hirschmugl
authors.affiliation: Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Asghar
authors.initials: A
authors.lastname: Aghamohammadi
authors.affiliation: Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Saba
authors.initials: S
authors.lastname: Arshi
authors.affiliation: Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Mohamad Hassan
authors.initials: MH
authors.lastname: Bemanian
authors.affiliation: Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Morteza
authors.initials: M
authors.lastname: Fallahpour
authors.affiliation: Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Rasool
authors.initials: R
authors.lastname: Molatefi
authors.affiliation: Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Mahsa
authors.initials: M
authors.lastname: Rekabi
authors.affiliation: Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Narges
authors.initials: N
authors.lastname: Eslami
authors.affiliation: Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Javad
authors.initials: J
authors.lastname: Ahmadian
authors.affiliation: Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Kian
authors.initials: K
authors.lastname: Darabi
authors.affiliation: Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Gholam Reza
authors.initials: GR
authors.lastname: Sedighi
authors.affiliation: Pediatrics Center for Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Monajemzadeh
authors.affiliation: 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.
authors.forename: Mohammadreza
authors.initials: M
authors.lastname: Modaresi
authors.affiliation: Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Nima
authors.initials: N
authors.lastname: Parvaneh
authors.affiliation: 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.
authors.forename: Kaan
authors.initials: K
authors.lastname: Boztug
authors.affiliation: 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.
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000361:Agammaglobulinemia / Q000150:complications*; D015551:Autoimmunity; D001402:B-Lymphocytes; D001989:Bronchiolitis Obliterans / Q000235:genetics*; D018549:Cryptogenic Organizing Pneumonia; D006720:Homozygote; D006801:Humans; D007075:Immunoglobulin M; D015212:Inflammatory Bowel Diseases; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011014:Pneumonia / Q000209:etiology*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D007075:Immunoglobulin M
keywords: Bronchiolitis obliterans organizing pneumonia; Hyper IgM; Hypogammaglobulinemia; LRBA deficiency