Coexistence of Two Rare Autosomal Recessive Disorders: Activation-Induced Cytidine Deaminase Deficiency and Sjogren-Larsson Syndrome

Isr Med Assoc J. 2016 Oct;18(10):636-638.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • AICDA (Activation-Induced Cytidine Deaminase)
  • Child
  • Cytidine Deaminase / genetics*
  • Humans
  • Hyper-IgM Immunodeficiency Syndrome / diagnosis*
  • Hyper-IgM Immunodeficiency Syndrome / genetics
  • Male
  • Mutation
  • Siblings
  • Sjogren-Larsson Syndrome / diagnosis*
  • Sjogren-Larsson Syndrome / genetics

Substances

  • AICDA (Activation-Induced Cytidine Deaminase)
  • Cytidine Deaminase