ALPK1 Gene Mutations Drive Autoinflammation with Ectodermal Dysplasia and Progressive Vision Loss

J Clin Immunol. 2021 Oct;41(7):1671-1673. doi: 10.1007/s10875-021-01087-3. Epub 2021 Jun 22.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenal Cortex Hormones / therapeutic use
  • Adult
  • Antirheumatic Agents / therapeutic use
  • Azathioprine / therapeutic use
  • Dermatologic Agents / therapeutic use
  • Ectodermal Dysplasia / drug therapy
  • Ectodermal Dysplasia / genetics*
  • Hereditary Autoinflammatory Diseases / drug therapy
  • Hereditary Autoinflammatory Diseases / genetics*
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Infliximab / therapeutic use
  • Male
  • Mutation
  • Protein Kinases / genetics*
  • Vision Disorders / drug therapy
  • Vision Disorders / genetics*

Substances

  • Adrenal Cortex Hormones
  • Antirheumatic Agents
  • Dermatologic Agents
  • Immunosuppressive Agents
  • Infliximab
  • Protein Kinases
  • ALPK1 protein, human
  • Azathioprine