Aug 16, 2019

RAS-associated Autoimmune Leukoproliferative disease (RALD) manifested with early-onset SLE-like syndrome: a case series of RALD in Chinese children

Pediatric Rheumatology Online Journal
Wei WangHongmei Song

Abstract

Primary immunodeficiency diseases (PIDs) patients may show systemic lupus erythematosus (SLE)-like autoimmunity disorders, such as cytopenias, as well as polyarthritis, which leads to concerns of misdiagnosis. We diagnosed three RALD cases between 2015 and 2018, who were suspected as SLE and summarized clinical characteristics. We collected and analyzed the clinical data of the 3 cases. DNA was extracted from the patients' and their parents' peripheral blood as well as oral mucosa cells, hair follicles, and nails. Genes were detected with the application of gene trapping high-throughput sequencing using PIDs panel and suspicious gene or mutation was further verified by Sanger sequencing. 1. On the one hand, the patients presented with severe thrombocytopenia, facial erythema, arthritis, positive autoantibodies and other manifestations, supporting the diagnosis of SLE. On the other hand, symptoms including early onset ages, recurrent infections, lymphadenopathy, hepatosplenomegaly, monocytosis and hypergammaglobulinemia, were common observed in PIDs. 2. Gene analysis: NRAS mutations (c.38G > A, p.G13D or c.37G > T, p.G13C) were found in the blood of the patients. Besides, the same set of mutations was detected in buccal mucosa o...Continue Reading

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Mentioned in this Paper

Autoantibodies
Thrombocytopenia
Primary Immune Deficiency Disorder
Mice, Inbred BALB C
Genes
Peripheral Blood
Genetic Screening (Procedure)
Hypergammaglobulinemia
Lymphadenopathy
Monocytosis

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