Spectrum of Phenotypes Associated with Mutations in LRBA
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- 作者：Omar K. Alkhairy ; Hassan Abolhassani ; Nima Rezaei…
- 关键词：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
- 刊名：Journal of Clinical Immunology
- 出版年：2016
- 出版时间：January 2016
- 年：2016
- 卷：36
- 期：1
- 页码：33-45
- 全文大小：1,109 KB
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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. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden
2. Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia
3. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
4. Department of Immunology, School of Medicine, and Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran
5. BGI-Shenzhen, Beishan Industrial Zone, Yantian District, Shenzhen, China
6. Pediatric Infectious Research Center, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
7. Noncommunicable Pediatric Diseases Research Center, Amirkola Hospital, Babol University of Medical Sciences, Babol, Iran
8. Department of Pediatrics, Makassed General Hospital, Beirut, Lebanon
9. Division of Immunology, Boston Children’s Hospital and the Department of Pediatrics, Harvard Medical School, Boston, MA, USA - 刊物类别：Biomedical and Life Sciences
- 刊物主题：Biomedicine
Immunology
Infectious Diseases
Internal Medicine
Medical Microbiology - 出版者：Springer Netherlands
- ISSN：1573-2592
文摘
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