Atypical presentation of IL-12 receptor beta1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents

J Allergy Clin Immunol. 2010 Jan;125(1):264-5. doi: 10.1016/j.jaci.2009.07.061. Epub 2009 Nov 11.

Abstract

Atypical presentation of IL-12 receptor β1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Codon, Nonsense
  • Consanguinity
  • Female
  • Humans
  • Infant
  • Interleukin-12 Receptor beta 1 Subunit* / deficiency
  • Interleukin-12 Receptor beta 1 Subunit* / genetics
  • Mycobacterium avium Complex
  • Mycobacterium avium-intracellulare Infection* / genetics
  • Mycobacterium avium-intracellulare Infection* / immunology
  • Mycobacterium avium-intracellulare Infection* / microbiology
  • Pneumococcal Infections / genetics
  • Pneumococcal Infections / immunology
  • Pneumococcal Infections / microbiology*
  • Sepsis* / genetics
  • Sepsis* / immunology
  • Sepsis* / microbiology
  • Streptococcus pneumoniae
  • United States

Substances

  • Codon, Nonsense
  • Interleukin-12 Receptor beta 1 Subunit