Exome Sequencing Revealed C1q Homozygous Mutation in Pediatric Systemic Lupus Erythematosus

Exome Sequencing Revealed C1q Homozygous Mutation in Pediatric Systemic Lupus Erythematosus Publisher Pubmed

Zoghi S¹ ; Ziaee V^{2, 3} ; Hirschmugl T^{4, 5} ; Jimenezheredia R^{4, 5} ; Krolo A^{4, 5} ; Boztug K^{4, 5, 6, 7} ; Rezaei N^{1, 8, 9}

Show Affiliations

1. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
2. Division of Pediatric Rheumatology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
3. Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran
4. CeMM Research Center of Molecular Medicine, Austrian Academy of Sciences, Division of Neonatal Medicine and Intensive Care, Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Vienna, Austria
5. Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria
6. Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
7. St Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, Austria
8. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
9. Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran

Source: Allergologia et Immunopathologia Published:2018

Abstract

Introduction and objectives: Pediatric Systemic Lupus Erythematosus (pSLE) is an autoimmune disorder of children. Early disease onset raises the probability of genetic etiology and it is more severe than adult SLE. Patients and methods: Herein an eight-year-old girl with pSLE from consanguineous parents is reported. Results: Although she was diagnosed as pSLE since the age of two years, Whole Exome Sequencing (WES) revealed a rare stop-gained C>T mutation in C1QA gene. The variant was validated and segregated in patient and the family. Furthermore, serum levels of the C1q protein were measured and found to be much lower than normal ranges. Conclusions: This study indicated that C1Q deficiency should be considered as a differential diagnosis of pSLE. Therefore, measurement of C1q should be recommended in all cases with pSLE. © 2018 SEICAP

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Style	Citing Format
MLA	Zoghi S, et al.. "Exome Sequencing Revealed C1q Homozygous Mutation in Pediatric Systemic Lupus Erythematosus." Allergologia et Immunopathologia, vol. 46, no. 6, 2018, pp. 594-598.
APA	Zoghi S, Ziaee V, Hirschmugl T, Jimenezheredia R, Krolo A, Boztug K, Rezaei N (2018). Exome Sequencing Revealed C1q Homozygous Mutation in Pediatric Systemic Lupus Erythematosus. Allergologia et Immunopathologia, 46(6), 594-598.
Chicago	Zoghi S, Ziaee V, Hirschmugl T, Jimenezheredia R, Krolo A, Boztug K, Rezaei N. "Exome Sequencing Revealed C1q Homozygous Mutation in Pediatric Systemic Lupus Erythematosus." Allergologia et Immunopathologia 46, no. 6 (2018): 594-598.
Harvard	Zoghi S et al. (2018) 'Exome Sequencing Revealed C1q Homozygous Mutation in Pediatric Systemic Lupus Erythematosus', Allergologia et Immunopathologia, 46(6), pp. 594-598.
Vancouver	Zoghi S, Ziaee V, Hirschmugl T, Jimenezheredia R, Krolo A, Boztug K, et al.. Exome Sequencing Revealed C1q Homozygous Mutation in Pediatric Systemic Lupus Erythematosus. Allergologia et Immunopathologia. 2018;46(6):594-598.
BibTex	@article{ author = {Zoghi S and Ziaee V and Hirschmugl T and Jimenezheredia R and Krolo A and Boztug K and Rezaei N}, title = {Exome Sequencing Revealed C1q Homozygous Mutation in Pediatric Systemic Lupus Erythematosus}, journal = {Allergologia et Immunopathologia}, volume = {46}, number = {6}, pages = {594-598}, year = {2018} }
RIS	TY - JOUR AU - Zoghi S AU - Ziaee V AU - Hirschmugl T AU - Jimenezheredia R AU - Krolo A AU - Boztug K AU - Rezaei N TI - Exome Sequencing Revealed C1q Homozygous Mutation in Pediatric Systemic Lupus Erythematosus JO - Allergologia et Immunopathologia VL - 46 IS - 6 SP - 594 EP - 598 PY - 2018 ER -

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