Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Editorial
. 2020 Nov;146(5):997-1001.
doi: 10.1016/j.jaci.2020.09.014. Epub 2020 Sep 25.

The systemic autoinflammatory diseases: Coming of age with the human genome

Affiliations
Editorial

The systemic autoinflammatory diseases: Coming of age with the human genome

Deborah L Stone et al. J Allergy Clin Immunol. 2020 Nov.
No abstract available

Keywords: Behçet disease spectrum; Linkage analysis; PFAPA; Yersenia pestis; familial Mediterranean fever (FMF); genome-wide association studies (GWASs); next-generation sequencing; somatic mosaicism.

PubMed Disclaimer

Conflict of interest statement

Disclosure of potential conflict of interest: The authors declare that they have no relevant conflicts of interest.

Figures

FIG 1.
FIG 1.
Chronology of advances in human genetics and genomics that occurred concurrently with progress in the field of autoinflammatory diseases. HIDS, Hyper-IgD syndrome; TRAPS, tumor necrosis factor receptor associated periodic syndrome.

References

    1. Collins FS, McKusick VA. Implications of the Human Genome Project for medical science. JAMA 2001;285:540–4. - PubMed
    1. International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997;90:797–807. - PubMed
    1. McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999;97:133–44. - PubMed
    1. Galon J, Aksentijevich I, McDermott MF, O-Shea JJ, Kastner DL. TNFRSF1A mutations and autoinflammatory syndromes. Curr Opin Immunol 2000;12:479–86. - PubMed
    1. Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med 2006;355:581–92. - PMC - PubMed

Publication types