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.
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 -