Hemophagocytic Lymphohistiocytosis Gene Variants in Childhood-Onset Systemic Lupus Erythematosus With Macrophage Activation Syndrome

REFERENCES

1. 1.↵
   1. Henderson LA,
   2. Cron RQ.

   Macrophage activation syndrome and secondary hemophagocytic lymphohistiocytosis in childhood inflammatory disorders: diagnosis and management. Paediatr Drugs 2020;22:29-44.

   OpenUrlPubMed
2. 2.↵
   1. Parodi A,
   2. Davi S,
   3. Pringe AB, et al; Lupus Working Group of the Paediatric Rheumatology European Society

   . Macrophage activation syndrome in juvenile systemic lupus erythematosus: a multinational multicenter study of thirty-eight patients. Arthritis Rheum 2009;60:3388-99.

   OpenUrlCrossRefPubMed
3. 3.↵
   1. Borgia RE,
   2. Gerstein M,
   3. Levy DM,
   4. Silverman ED,
   5. Hiraki LT.

   Features, treatment, and outcomes of macrophage activation syndrome in childhood-onset systemic lupus erythematosus. Arthritis Rheumatol 2018;70:616-24.

   OpenUrlPubMed
4. 4.↵
   1. Kaufman KM,
   2. Linghu B,
   3. Szustakowski JD, et al.

   Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis. Arthritis Rheumatol 2014;66:3486-95.

   OpenUrlPubMed
5. 5.↵
   1. Hochberg MC.

   Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1997;40:1725.

   OpenUrlCrossRefPubMed
6. 6.↵
   1. Petri M,
   2. Orbai AM,
   3. Alarcon GS, et al.

   Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus. Arthritis Rheum 2012;64:2677-86.

   OpenUrlCrossRefPubMed
7. 7.↵
   1. Gerstein M,
   2. Borgia RE,
   3. Dominguez D, et al.

   Predicting macrophage activation syndrome in childhood-onset systemic lupus erythematosus patients at diagnosis. J Rheumatol 2021;48:1450-7.

   OpenUrlAbstract/FREE Full Text
8. 8.↵
   1. Henter JI,
   2. Horne A,
   3. Arico M, et al.

   HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 2007;48:124-31.

   OpenUrlCrossRefPubMed
9. 9.↵
   1. Van der Auwera GA,
   2. Carneiro MO,
   3. Hartl C, et al.

   From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Curr Protoc Bioinformatics 2013; 43:11.0.1-11.10.33.

   OpenUrlPubMed
10. 10.
    1. Alexander DH,
    2. Novembre J,
    3. Lange K.

    Fast model-based estimation of ancestry in unrelated individuals. Genome Res 2009;19:1655-64.

    OpenUrlAbstract/FREE Full Text
11. 11.↵
    1. Cron RQ,
    2. Behrens EM

    1. Schulert GS,
    2. Zhang K.

    Genetics of acquired cytokine storm syndromes. In: Cron RQ, Behrens EM, editors. Cytokine storm syndrome. Switzerland: Springer; 2019:113-29.
12. 12.↵
    1. Machiela MJ,
    2. Chanock SJ.

    LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants. Bioinformatics 2015;31:3555-7.

    OpenUrlCrossRefPubMed
13. 13.↵
    1. Rentzsch P,
    2. Witten D,
    3. Cooper GM,
    4. Shendure J,
    5. Kircher M.

    CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res 2019;47:D886-94.

    OpenUrlCrossRefPubMed
14. 14.↵
    1. Schulert GS,
    2. Zhang M,
    3. Fall N, et al.

    Whole-exome sequencing reveals mutations in genes linked to hemophagocytic lymphohistiocytosis and macrophage activation syndrome in fatal cases of H1N1 Influenza. J Infect Dis 2016;213:1180-8.

    OpenUrlCrossRefPubMed
15. 15.↵
    1. Gorelik M,
    2. Torok KS,
    3. Kietz DA,
    4. Hirsch R.

    Hypocomplementemia associated with macrophage activation syndrome in systemic juvenile idiopathic arthritis and adult onset Still’s disease: 3 cases. J Rheumatol 2011;38:396-7.

    OpenUrlFREE Full Text
16. 16.↵
    1. Barbitoff YA,
    2. Polev DE,
    3. Glotov AS, et al.

    Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage. Sci Rep 2020;10:2057.

    OpenUrlCrossRef