Journal of Clinical Immunology

, Volume 36, Issue 1, pp 33–45 | Cite as

Spectrum of Phenotypes Associated with Mutations in LRBA

  • Omar K. Alkhairy
  • Hassan Abolhassani
  • Nima Rezaei
  • Mingyan Fang
  • Kasper Krogh Andersen
  • Zahra Chavoshzadeh
  • Iraj Mohammadzadeh
  • Mariam A. El-Rajab
  • Michel Massaad
  • Janet Chou
  • Asghar Aghamohammadi
  • Raif S. Geha
  • Lennart Hammarström
CME Review

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.

Keywords

Primary immunodeficiency disorders (PID) lipopolysaccharide responsive beige-like anchor protein (LRBA) common variable immunodeficiency (CVID) autoimmune disease (AID) chronic diarrhea (CD) hypogammaglobulinemia (HGG) organomegaly (OM) regulatory T-cells (Treg) cytotoxic T-lymphocyte-associated protein 4 (CTLA4) autophagy apoptosis 

Supplementary material

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Supplementary Table 1(DOC 135 kb)
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Supplementary Table 2(DOC 112 kb)
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Supplementary Table 3(DOCX 22 kb)
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Supplementary Table 4(DOCX 16 kb)
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Supplementary Table 5(DOCX 16 kb)
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Supplementary Table 6(DOCX 17 kb)

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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  • Omar K. Alkhairy
    • 1
    • 2
  • Hassan Abolhassani
    • 1
    • 3
  • Nima Rezaei
    • 3
    • 4
  • Mingyan Fang
    • 1
    • 5
  • Kasper Krogh Andersen
    • 1
  • Zahra Chavoshzadeh
    • 6
  • Iraj Mohammadzadeh
    • 7
  • Mariam A. El-Rajab
    • 8
  • Michel Massaad
    • 9
  • Janet Chou
    • 9
  • Asghar Aghamohammadi
    • 3
  • Raif S. Geha
    • 9
  • Lennart Hammarström
    • 1
  1. 1.Division of Clinical Immunology, Department of Laboratory MedicineKarolinska Institutet at Karolinska University Hospital HuddingeStockholmSweden
  2. 2.Department of Pathology and Laboratory MedicineKing Abdulaziz Medical CityRiyadhSaudi Arabia
  3. 3.Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical CenterTehran University of Medical SciencesTehranIran
  4. 4.Department of Immunology, School of Medicine, and Molecular Immunology Research CenterTehran University of Medical SciencesTehranIran
  5. 5.BGI-Shenzhen, Beishan Industrial ZoneShenzhenChina
  6. 6.Pediatric Infectious Research Center, Mofid Children HospitalShahid Beheshti University of Medical SciencesTehranIran
  7. 7.Noncommunicable Pediatric Diseases Research Center, Amirkola HospitalBabol University of Medical SciencesBabolIran
  8. 8.Department of PediatricsMakassed General HospitalBeirutLebanon
  9. 9.Division of Immunology, Boston Children’s Hospital and the Department of PediatricsHarvard Medical SchoolBostonUSA

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