A Novel CARMIL2 Mutation Resulting in Combined Immunodeficiency Manifesting with Dermatitis, Fungal, and Viral Skin Infections As Well as Selective Antibody Deficiency

J Clin Immunol. 2019 Apr;39(3):274-276. doi: 10.1007/s10875-019-00628-1. Epub 2019 Apr 18.
No abstract available

Publication types

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

MeSH terms

  • Agammaglobulinemia
  • Dermatitis
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Male
  • Microfilament Proteins / genetics*
  • Mutation / genetics*
  • Mycoses
  • Skin / pathology*
  • Skin / virology
  • Virus Diseases

Substances

  • CARMIL1 protein, human
  • Microfilament Proteins