Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers

Acta Derm Venereol. 2020 Jan 23;100(1):adv00038. doi: 10.2340/00015555-3370.
No abstract available

Keywords: CARMIL2; RLTPR; dermatitis; eosinophilic gastroenteritis; immunological deficiency syndromes.

Publication types

  • Case Reports

MeSH terms

  • B-Lymphocytes / immunology
  • Codon, Nonsense*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology
  • Immunologic Deficiency Syndromes / pathology*
  • Immunologic Deficiency Syndromes / therapy
  • Intestinal Mucosa / immunology
  • Intestinal Mucosa / pathology*
  • Microfilament Proteins / genetics*
  • Mouth Mucosa / immunology
  • Mouth Mucosa / pathology*
  • Phenotype
  • Skin / immunology
  • Skin / pathology*
  • T-Lymphocytes, Regulatory / immunology
  • Young Adult

Substances

  • CARMIL1 protein, human
  • Codon, Nonsense
  • Microfilament Proteins