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Spectrum of Phenotypes Associated With Mutations in Lrba Publisher Pubmed



Alkhairy OK1, 2 ; Abolhassani H1, 3 ; Rezaei N3, 4 ; Fang M1, 5 ; Andersen KK1 ; Chavoshzadeh Z6 ; Mohammadzadeh I7 ; Elrajab MA8 ; Massaad M9 ; Chou J9 ; Aghamohammadi A3 ; Geha RS9 ; Hammarstrom L1
Authors
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Authors Affiliations
  1. 1. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden
  2. 2. Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia
  3. 3. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Department of Immunology, School of Medicine, and Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran
  5. 5. BGI-Shenzhen, Beishan Industrial Zone, Yantian District, Shenzhen, China
  6. 6. Pediatric Infectious Research Center, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  7. 7. Noncommunicable Pediatric Diseases Research Center, Amirkola Hospital, Babol University of Medical Sciences, Babol, Iran
  8. 8. Department of Pediatrics, Makassed General Hospital, Beirut, Lebanon
  9. 9. Division of Immunology, Boston Children’s Hospital and the Department of Pediatrics, Harvard Medical School, Boston, MA, United States

Source: Journal of Clinical Immunology Published:2016


Abstract

To date, several germline mutations have been identified in the LRBA gene in patients suffering from a variety of clinical symptoms. These mutations abolish the expression of the LRBA protein, leading to autoimmunity, chronic diarrhea, B-cell deficiency, hypogammaglobulinemia, functional T-cell defects and aberrant autophagy. We review the clinical and laboratory features of patients with LRBA mutations and present five novel mutations in eight patients suffering from a multitude of clinical features. © 2015, Springer Science+Business Media New York.
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