Autoinflammation with Infantile Enterocolitis Associated with Recurrent Perianal Abscesses

J Clin Immunol. 2019 Apr;39(3):237-240. doi: 10.1007/s10875-019-00611-w. Epub 2019 Mar 12.
No abstract available

Keywords: IL-18; MAS-like syndrome; NLRC4 inflammasomopathies; abscesses; anakinra; gut inflammation; infants; neonates; sepsis-like.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abscess / diagnosis*
  • Abscess / drug therapy
  • Animals
  • Anti-Inflammatory Agents / therapeutic use
  • Autoimmune Diseases / diagnosis*
  • Autoimmune Diseases / drug therapy
  • CARD Signaling Adaptor Proteins / genetics*
  • Calcium-Binding Proteins / genetics*
  • Enterocolitis / diagnosis*
  • Enterocolitis / drug therapy
  • Eosinophils / immunology*
  • Exome Sequencing
  • Humans
  • Infant
  • Infant, Newborn
  • Interleukin 1 Receptor Antagonist Protein / therapeutic use
  • Male
  • Mutation / genetics*
  • Perianal Glands / pathology*
  • Recurrence

Substances

  • Anti-Inflammatory Agents
  • CARD Signaling Adaptor Proteins
  • Calcium-Binding Proteins
  • Interleukin 1 Receptor Antagonist Protein
  • NLRC4 protein, human