Brief Report: Novel UNC13D Intronic Variant Disrupting an NF-κB Enhancer in a Patient With Recurrent Macrophage Activation Syndrome and Systemic Juvenile Idiopathic Arthritis-Reference-Cited by-同舟云学术

Brief Report: Novel UNC13D Intronic Variant Disrupting an NF-κB Enhancer in a Patient With Recurrent Macrophage Activation Syndrome and Systemic Juvenile Idiopathic Arthritis

Published:2018-05-02 Issue:6 Volume:70 Page:963-970
ISSN:2326-5191
Container-title:Arthritis & Rheumatology
language:en
Short-container-title:Arthritis Rheumatol

Author:

Schulert Grant S.¹,Zhang Mingce²,Husami Ammar¹,Fall Ndate¹,Brunner Hermine¹,Zhang Kejian¹,Cron Randy Q.²,Grom Alexei A.¹

Affiliation:

1. Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine; Cincinnati Ohio

2. Children's Hospital of Alabama; University of Alabama at Birmingham

Funder

National Institutes of Health

Rheumatology Research Foundation

Cincinnati Children’s Research Foundation

Histiocytosis Association

Publisher

Wiley

Subject

Immunology,Rheumatology,Immunology and Allergy

Reference17 articles.

1. Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment;Ravelli;Genes Immun,2012

2. Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms;Zhang;Arthritis Rheum,2008

3. Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis;Kaufman;Arthritis Rheumatol,2014

4. Genetic defects in cytolysis in macrophage activation syndrome;Zhang;Curr Rheumatol Rep,2014

5. The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3;Qian;Pediatr Blood Cancer,2014

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