Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

J Clin Invest. 2015 Nov 2;125(11):4135-48. doi: 10.1172/JCI80477. Epub 2015 Oct 12.

Abstract

Patients with mutations of the recombination-activating genes (RAG) present with diverse clinical phenotypes, including severe combined immune deficiency (SCID), autoimmunity, and inflammation. However, the incidence and extent of immune dysregulation in RAG-dependent immunodeficiency have not been studied in detail. Here, we have demonstrated that patients with hypomorphic RAG mutations, especially those with delayed-onset combined immune deficiency and granulomatous/autoimmune manifestations (CID-G/AI), produce a broad spectrum of autoantibodies. Neutralizing anti-IFN-α or anti-IFN-ω antibodies were present at detectable levels in patients with CID-G/AI who had a history of severe viral infections. As this autoantibody profile is not observed in a wide range of other primary immunodeficiencies, we hypothesized that recurrent or chronic viral infections may precipitate or aggravate immune dysregulation in RAG-deficient hosts. We repeatedly challenged Rag1S723C/S723C mice, which serve as a model of leaky SCID, with agonists of the virus-recognizing receptors TLR3/MDA5, TLR7/-8, and TLR9 and found that this treatment elicits autoantibody production. Altogether, our data demonstrate that immune dysregulation is an integral aspect of RAG-associated immunodeficiency and indicate that environmental triggers may modulate the phenotypic expression of autoimmune manifestations.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Animals
  • Antibodies, Neutralizing / blood
  • Antibodies, Neutralizing / immunology
  • Antibody Specificity
  • Autoantibodies / blood
  • Autoantibodies / immunology*
  • Autoantigens / immunology*
  • Autoimmune Diseases / genetics
  • Autoimmune Diseases / immunology*
  • Child
  • Child, Preschool
  • Cytokines / immunology*
  • DEAD-box RNA Helicases / immunology
  • DNA-Binding Proteins / deficiency*
  • DNA-Binding Proteins / genetics
  • Disease Models, Animal
  • Female
  • Granulomatous Disease, Chronic / genetics
  • Granulomatous Disease, Chronic / immunology*
  • Granulomatous Disease, Chronic / therapy
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / immunology*
  • Humans
  • Infant
  • Interferon-Induced Helicase, IFIH1
  • Male
  • Mice
  • Mice, Inbred Strains
  • Nuclear Proteins / deficiency*
  • Nuclear Proteins / genetics
  • Severe Combined Immunodeficiency / genetics
  • Severe Combined Immunodeficiency / immunology*
  • Severe Combined Immunodeficiency / therapy
  • Toll-Like Receptors / agonists
  • Toll-Like Receptors / immunology
  • Virus Diseases / immunology
  • Young Adult

Substances

  • Antibodies, Neutralizing
  • Autoantibodies
  • Autoantigens
  • Cytokines
  • DNA-Binding Proteins
  • Homeodomain Proteins
  • Nuclear Proteins
  • RAG2 protein, human
  • Toll-Like Receptors
  • RAG-1 protein
  • Ifih1 protein, mouse
  • DEAD-box RNA Helicases
  • Interferon-Induced Helicase, IFIH1