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LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis.
Clin Immunol. 2016 07; 168:88-93.CI

Abstract

LRBA (lipopolysaccharide-responsive and beige-like anchor protein) deficiency associates immune deficiency, lymphoproliferation, and various organ-specific autoimmunity. To date, prevalent symptoms are autoimmune cytopenias and enteropathy, and lymphocytic interstitial lung disease. In 2 siblings from a consanguineous family presenting with early onset polyautoimmunity, we presumed autosomal recessive inheritance and performed whole exome sequencing. We herein report the first case of early-onset, severe, chronic polyarthritis associated with LRBA deficiency. A novel 1bp insertion in the LRBA gene, abolishing protein expression, was identified in this family. Among the 2 brothers homozygous for LRBA mutation, one developed Evans syndrome and deceased at age 8.5 from complications of severe autoimmune thrombocytopenia. His brother, who carried the same homozygous LRBA mutation, early-onset erosive polyarthritis associated with chronic, bilateral, anterior uveitis and early onset type 1 diabetes mellitus. This report widens the clinical spectrum of LRBA deficiency and, in lights of the variable phenotypes described so far, prompts us to screen for this disease in patients with multiple autoimmune symptoms in the family, including severe, erosive, polyarticular juvenile arthritis.

Authors+Show Affiliations

INSERM UMR 1163, Laboratory of Immunogenetics of Pediatric autoimmune Diseases, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.INSERM UMR 1163, Laboratory of Immunogenetics of Pediatric autoimmune Diseases, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France; Pathology Department, Necker-Enfants Malades University Hospital, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France; INSERM UMR 1163, Laboratory of Molecular Mechanisms of Hematologic Disorders and Therapeutic Implications, 75015 Paris, France.Paediatric Radiology Department, Necker-Enfants Malades University Hospital, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.INSERM UMR 1163, Laboratory of Immunogenetics of Pediatric autoimmune Diseases, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France; Paediatric Immuno-haematology and Rheumatology Department, Necker-Enfants Malades University Hospital, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.Paediatric Department, Jean-Verdier Hospital, Assistance Publique - Hôpitaux de Paris, 93140 Bondy, France.Genomic Platform, INSERM UMR 1163, Paris Descartes Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France; INSERM UMR 1163, Bioinformatics Department, Institute Imagine, 75015 Paris, France.Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France; Paediatric Immuno-haematology and Rheumatology Department, Necker-Enfants Malades University Hospital, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France; INSERM UMR 1163, Imagine Institute, 75015 Paris, France.INSERM UMR 1163, Laboratory of Immunogenetics of Pediatric autoimmune Diseases, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.INSERM UMR 1163, Laboratory of Immunogenetics of Pediatric autoimmune Diseases, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France; Paediatric Immuno-haematology and Rheumatology Department, Necker-Enfants Malades University Hospital, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.INSERM UMR 1163, Laboratory of Immunogenetics of Pediatric autoimmune Diseases, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France. Electronic address: frederic.rieux-laucat@inserm.fr.

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

27057999

Citation

Lévy, Eva, et al. "LRBA Deficiency With Autoimmunity and Early Onset Chronic Erosive Polyarthritis." Clinical Immunology (Orlando, Fla.), vol. 168, 2016, pp. 88-93.
Lévy E, Stolzenberg MC, Bruneau J, et al. LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis. Clin Immunol. 2016;168:88-93.
Lévy, E., Stolzenberg, M. C., Bruneau, J., Breton, S., Neven, B., Sauvion, S., Zarhrate, M., Nitschké, P., Fischer, A., Magérus-Chatinet, A., Quartier, P., & Rieux-Laucat, F. (2016). LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis. Clinical Immunology (Orlando, Fla.), 168, 88-93. https://doi.org/10.1016/j.clim.2016.03.006
Lévy E, et al. LRBA Deficiency With Autoimmunity and Early Onset Chronic Erosive Polyarthritis. Clin Immunol. 2016;168:88-93. PubMed PMID: 27057999.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis. AU - Lévy,Eva, AU - Stolzenberg,Marie-Claude, AU - Bruneau,Julie, AU - Breton,Sylvain, AU - Neven,Bénédicte, AU - Sauvion,Sylvie, AU - Zarhrate,Mohammed, AU - Nitschké,Patrick, AU - Fischer,Alain, AU - Magérus-Chatinet,Aude, AU - Quartier,Pierre, AU - Rieux-Laucat,Frédéric, Y1 - 2016/04/05/ PY - 2016/02/04/received PY - 2016/03/02/revised PY - 2016/03/03/accepted PY - 2016/4/9/entrez PY - 2016/4/9/pubmed PY - 2017/3/31/medline KW - Autoimmunity KW - Exome sequencing KW - Juvenile idiopathic arthritis KW - LRBA deficiency KW - Primary immune deficiency SP - 88 EP - 93 JF - Clinical immunology (Orlando, Fla.) JO - Clin Immunol VL - 168 N2 - LRBA (lipopolysaccharide-responsive and beige-like anchor protein) deficiency associates immune deficiency, lymphoproliferation, and various organ-specific autoimmunity. To date, prevalent symptoms are autoimmune cytopenias and enteropathy, and lymphocytic interstitial lung disease. In 2 siblings from a consanguineous family presenting with early onset polyautoimmunity, we presumed autosomal recessive inheritance and performed whole exome sequencing. We herein report the first case of early-onset, severe, chronic polyarthritis associated with LRBA deficiency. A novel 1bp insertion in the LRBA gene, abolishing protein expression, was identified in this family. Among the 2 brothers homozygous for LRBA mutation, one developed Evans syndrome and deceased at age 8.5 from complications of severe autoimmune thrombocytopenia. His brother, who carried the same homozygous LRBA mutation, early-onset erosive polyarthritis associated with chronic, bilateral, anterior uveitis and early onset type 1 diabetes mellitus. This report widens the clinical spectrum of LRBA deficiency and, in lights of the variable phenotypes described so far, prompts us to screen for this disease in patients with multiple autoimmune symptoms in the family, including severe, erosive, polyarticular juvenile arthritis. SN - 1521-7035 UR - https://www.unboundmedicine.com/medline/citation/27057999/LRBA_deficiency_with_autoimmunity_and_early_onset_chronic_erosive_polyarthritis_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1521-6616(16)30034-1 DB - PRIME DP - Unbound Medicine ER -