title: Spectrum of Phenotypes Associated with Mutations in LRBA.
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.
authors.affiliation: Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.|Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
authors.forename: Omar K
authors.initials: OK
authors.lastname: Alkhairy
authors.affiliation: Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.|Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Hassan
authors.initials: H
authors.lastname: Abolhassani
authors.affiliation: Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.|Department of Immunology, School of Medicine, and Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
authors.affiliation: Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.|BGI-Shenzhen, Beishan Industrial Zone, Yantian District, Shenzhen, China.
authors.forename: Mingyan
authors.initials: M
authors.lastname: Fang
authors.affiliation: Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.
authors.forename: Kasper Krogh
authors.initials: KK
authors.lastname: Andersen
authors.affiliation: Pediatric Infectious Research Center, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Zahra
authors.initials: Z
authors.lastname: Chavoshzadeh
authors.affiliation: Noncommunicable Pediatric Diseases Research Center, Amirkola Hospital, Babol University of Medical Sciences, Babol, Iran.
authors.forename: Iraj
authors.initials: I
authors.lastname: Mohammadzadeh
authors.affiliation: Department of Pediatrics, Makassed General Hospital, Beirut, Lebanon.
authors.forename: Mariam A
authors.initials: MA
authors.lastname: El-Rajab
authors.affiliation: Division of Immunology, Boston Children's Hospital and the Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
authors.forename: Michel
authors.initials: M
authors.lastname: Massaad
authors.affiliation: Division of Immunology, Boston Children's Hospital and the Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
authors.forename: Janet
authors.initials: J
authors.lastname: Chou
authors.affiliation: Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Asghar
authors.initials: A
authors.lastname: Aghamohammadi
authors.affiliation: Division of Immunology, Boston Children's Hospital and the Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
authors.forename: Raif S
authors.initials: RS
authors.lastname: Geha
authors.affiliation: Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden. lennart.hammarstrom@ki.se.
authors.forename: Lennart
authors.initials: L
authors.lastname: Hammarström
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics / Q000378:metabolism*; D000293:Adolescent; D000328:Adult; D000818:Animals; D015551:Autoimmunity / Q000235:genetics; D001343:Autophagy / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis*; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D012131:Respiratory Insufficiency / Q000175:diagnosis*; D055815:Young Adult
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C428703:LRBA protein, human
keywords: Primary immunodeficiency disorders (PID); apoptosis; autoimmune disease (AID); autophagy; chronic diarrhea (CD); common variable immunodeficiency (CVID); cytotoxic T-lymphocyte-associated protein 4 (CTLA4); hypogammaglobulinemia (HGG); lipopolysaccharide responsive beige-like anchor protein (LRBA); organomegaly (OM); regulatory T-cells (Treg)