Title of article :
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
Author/Authors :
Shokri، Sima نويسنده Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Shokri, Sima , Nabavi، Mohammad نويسنده , , Hirschmugl، Tatjana نويسنده CeMM Research Center for Molecular Medicine, Austrian Academy of Sciences, Vienna, Austria. Hirschmugl, Tatjana , Aghamohammadi، Asghar نويسنده , , Arshi، Saba نويسنده Department of Immunology, Tehran University of Medical Sciences, Tehran, Iran Arshi, Saba , Bemanian، Mohamad Hassan نويسنده Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Bemanian, Mohamad Hassan , Fallahpour، Morteza نويسنده Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Fallahpour, Morteza , Molatefi، Rasool نويسنده Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Molatefi, Rasool , Rekabi، Mahsa نويسنده Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Rekabi, Mahsa , Eslami، Narges نويسنده Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Eslami, Narges , Ahmadian، Mohammad Javad نويسنده Ph.D. Student , , Darabi، Kian نويسنده Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Darabi, Kian , Sedighi، Gholam Reza نويسنده Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Sedighi, Gholam Reza , Monajemzadeh، Maryam نويسنده Department of Pathology, Tehran University of Medical Sciences, Tehran, Iran , , Modaresi، Mohammadreza نويسنده Division of Pediatrics Pulmonary Disease, Children’s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, IR Iran , , Parvaneh، Nima نويسنده , , Boztug، Kaan نويسنده 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. Boztug, Kaan , Rezaei، Nima نويسنده ,
Issue Information :
ماهنامه با شماره پیاپی 0 سال 2016
Pages :
4
From page :
620
To page :
623
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.

Journal title :
Acta Medica Iranica
Serial Year :
2016
Journal title :
Acta Medica Iranica
Record number :
2397446
Link To Document :
https://search.isc.ac/dl/search/defaultta.aspx?DTC=10&DC=2397446
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