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Identifying Novel Mutations in Iranian Patients With Lps-Responsive Beige-Like Anchor Protein (Lrba) Deficiency Publisher Pubmed



Ghaini M1 ; Arzanian MT2 ; Shamsian BS2 ; Sadr S3 ; Rohani P4 ; Keramatipour M5 ; Mesdaghi M1 ; Eskandarzadeh S1 ; Lo B6 ; Jamee M7, 8 ; Chavoshzadeh Z1
Authors
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Authors Affiliations
  1. 1. Immunology and Allergy Department, Mofid Children’s Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran
  2. 2. Department of Pediatric Hematology and Oncology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran
  3. 3. Department of Pediatric Pulmonology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran
  4. 4. Department of Pediatric Gastroenterology and Hepatology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  5. 5. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Department of Human Genetics, Research Branch, Sidra Medicine, Doha, Qatar
  7. 7. Student Research Committee, Alborz University of Medical Sciences, Karaj, Iran
  8. 8. Alborz Office of USERN, Universal Scientific Education and Research Network (USERN), Alborz University of Medical Sciences, Karaj, Iran

Source: Immunological Investigations Published:2021


Abstract

LPS-responsive beige-like anchor protein (LRBA) deficiency is a monogenic primary immunodeficiency characterized by a heterogeneous spectrum of clinical manifestations associated with immune dysregulation. In this study, we reported clinical, immunologic, and genetic evaluation of two Iranian patients from unrelated families, both suffering from recurrent respiratory tract infections, failure to thrive, interstitial lung disease, autoimmune cytopenia, and hypogammaglobulinemia. Pulmonary abscess in one patient and persistent enteropathy in another were also observed. Further investigations revealed causative mutations in the exon (c.2166_2766del) and intron (c.4730–3 T > G) of the LRBA gene. These results may provide further elucidation of the clinical phenotypes and responsible genetic factors of LRBA deficiency. © 2020 Taylor & Francis Group, LLC.
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