Concepedia

Whole‐Exome Sequencing Reveals Overlap Between Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis and Familial Hemophagocytic Lymphohistiocytosis

Kenneth M. Kaufman, Bolan Linghu, Joseph D. Szustakowski, Ammar Husami, Fan Yang, Kejian Zhang, Alexandra H. Filipovich, Ndate Fall, John B. Harley, Nanguneri Nirmala,

Arthritis & Rheumatology · 2014 · 202 citations · 36 references

DOIFull text

Open access

Abstract

Whole-exome sequencing performed in patients with systemic JIA and MAS identified rare protein-altering variants in known HLH-associated genes as well as in new candidate genes.

References

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HLH‐2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis

Jan‐Inge Henter, AnnaCarin Horne, Maurizio Aricò et al. · Pediatric Blood & Cancer · 2006 · 5.1K citations

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

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Sarah Ng, Kati J. Buckingham, Choli Lee et al. · Nature Genetics · 2009 · 1.9K citations · Full text

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