Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

Journal
Frontiers in Pediatrics
ISSN
2296-2360
Date Issued
2021
Author(s)
Josefina Longeri Contreras
Mabel A. Ladino
Katherine Aránguiz
Gonzalo P. Mendez
Zeynep Coban-Akdemir
Bo Yuan
Richard A. Gibbs
Lindsay C. Burrage
James R. Lupski
Ivan K. Chinn
Tiphanie P. Vogel
Jordan S. Orange
M. Cecilia Poli
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-85107172531
WoS ID
WOS:000657275900001
DOI
URL
Abstract
<jats:p>Lysinuric protein intolerance (LPI) is an inborn error of metabolism caused by defective transport of cationic amino acids in epithelial cells of intestines, kidneys and other tissues as well as non-epithelial cells including macrophages. LPI is caused by biallelic, pathogenic variants in <jats:italic>SLC7A7</jats:italic>. The clinical phenotype of LPI includes failure to thrive and multi-system disease including hematologic, neurologic, pulmonary and renal manifestations. Individual presentations are extremely variable, often leading to misdiagnosis or delayed diagnosis. Here we describe a patient that clinically presented with immune dysregulation in the setting of early-onset systemic lupus erythematosus (SLE), including renal involvement, in whom an LPI diagnosis was suspected post-mortem based on exome sequencing analysis. A review of the literature was performed to provide an overview of the clinical spectrum and immune mechanisms involved in this disease. The precise mechanism by which ineffective amino acid transport triggers systemic inflammatory features is not yet understood. However, LPI should be considered in the differential diagnosis of early-onset SLE, particularly in the absence of response to immunosuppressive therapy.</jats:p>
Cite this document
Contreras, J. L., Ladino, M. A., Aránguiz, K., Mendez, G. P., Coban-Akdemir, Z., Yuan, B., Gibbs, R. A., Burrage, L. C., Lupski, J. R., Chinn, I. K., Vogel, T. P., Orange, J. S., & Poli, M. C. (2021). Immune dysregulation mimicking systemic lupus erythematosus in a patient with lysinuric protein intolerance: Case report and review of the literature. Frontiers in Pediatrics, 9, 673957. https://doi.org/10.3389/fped.2021.673957
Project(s)
Subjects
lysinuric protein intolerance

; 

systemic lupus erythematosus

; 

hemophagocytic lymphohistiocytosis

; 

immune mediated glomerulonephritis

; 

case report

; 

systemic lupus-erythematosus

; 

antibiotic agent

; 

antinuclear antibody

; 

azithromycin

; 

cefotaxime

; 

clindamycin

; 

cyclophosphamide

; 

eculizumab

; 

immunoglobulin

; 

methylprednisolone

; 

ro antibody

; 

sm antibody

; 

steroid

; 

sultamicillin

; 

amino acid transport

; 

antibody titer

; 

article

; 

autopsy

; 

bacterial pneumonia

; 

case report

; 

child

; 

clinical article

; 

differential diagnosis

; 

disease severity

; 

drug megadose

; 

failure to thrive

; 

gene

; 

genetic variability

; 

human

; 

human tissue

; 

immune deficiency

; 

immune dysregulation

; 

kidney disease

; 

lysinuric protein intolerance

; 

male

; 

nonhuman

; 

phenotype

; 

preschool child

; 

slc7a7 gene

; 

suppurative otitis media

; 

systemic disease

; 

systemic lupus erythematosus

; 

thrombotic thrombocytopenic purpura

; 

whole exome sequencing