The Journal of Allergy and Clinical Immunology
Volume 125, Issue 1 , Pages 264-265 , January 2010

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

  • David A. Gruenberg, MD

      Affiliations

    • University of Wisconsin School of Medicine and Public Health, Madison, Madison, Wis
    • ,
  • Stephanie Añover-Sombke, BS

      Affiliations

    • University of Washington and Seattle Children's Research Institute, Seattle, Wash
    • ,
  • James E. Gern, MD

      Affiliations

    • University of Wisconsin School of Medicine and Public Health, Madison, Madison, Wis
    • ,
  • Steven M. Holland, MD

      Affiliations

    • National Institutes of Health, Bethesda, Md
    • ,
  • Sergio D. Rosenzweig, MD, PhD

      Affiliations

    • National Institutes of Health, Bethesda, Md
    • ,
  • Troy R. Torgerson, MD, PhD

      Affiliations

    • University of Washington and Seattle Children's Research Institute, Seattle, Wash
    • ,
  • Christine M. Seroogy, MD

      Affiliations

    • University of Wisconsin School of Medicine and Public Health, Madison, Madison, Wis

References 

  1. Rosenzweig SD, Holland SM. Phagocyte immunodeficiencies and their infections. J Allergy Clin Immunol. 2004;113:620–626
  2. Uzel G, Frucht DM, Fleisher TA, Holland SM. Detection of intracellular phosphorylated STAT-4 by flow cytometry. Clin Immunol. 2001;100:270–276
  3. Fleisher TA, Dorman SE, Anderson JA, Vail M, Brown MR, Holland SM. Detection of intracellular phosphorylated STAT-1 by flow cytometry. Clin Immunol. 1999;90:425–430
  4. Fieschi C, Dupuis S, Catherinot E, Feinberg J, Bustamante J, Breiman A, et al. Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med. 2003;197:527–535
  5. Yancoski J, Rocco C, Bernasconi A, Oleastro M, Bezrodnik L, Vratnica C, et al. A 475 years-old founder effect involving IL12Rb1: a highly prevalent mutation conferring mendelian susceptibility to mycobacterial diseases in European descendants. Infect Genet Evol. 2009;9:574–580
  6. Lauw FN, Branger J, Florquin S, Speelman P, Van Deventer SJ, Akira S, et al. IL-18 improves the early antimicrobial host response to pneumococcal pneumonia. J Immunol. 2002;168:373–378
  7. Sun K, Salmon SL, Lotz SA, Metzger DW. Interleukin-12 promotes gamma interferon-dependent neutrophil recruitment in the lung and improves protection against respiratory Streptococcus pneumoniae infection. Infect Immun. 2007;75:1196–1202

 Disclosure of potential conflict of interest: C. M. Seroogy and D. A. Gruenberg have received research support from the National Institutes of Health, the American Academy of Allergy, Asthma & Immunology, and Midwest Athletes Against Childhood Cancer. T. R. Torgerson is on a scientific advisory board for Baxter Healthcare and has received research support from CSL Behring and Grifols. The rest of the authors have declared that they have no conflict of interest.

PII: S0091-6749(09)01324-4

doi: 10.1016/j.jaci.2009.07.061

The Journal of Allergy and Clinical Immunology
Volume 125, Issue 1 , Pages 264-265 , January 2010

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