Painful Skin Nodules, Prolonged Fever and Cervical Lymphadenopathy

  • Michelle N. G. Ying
  • Emily Yiping Gan
  • Jean Aan Mark Koh


  • Disseminated non-tuberculous mycobacterial infections occurring in a young patient should raise the suspicion of an underlying primary immunodeficiency

  • First line investigations should comprise a search for mendelian susceptibility to mycobacterial disease (MSMD), in particular IL-12:IFN-γ loop defects

  • Patients with acquired defects that could disrupt the IFN-γ-associated immune pathway, such as pathological presence of anti-IFN-γ autoantibodies with neutralizing capacity, display a similar immunodeficiency picture to MSMD


Mendelian susceptibility to mycobacterial disease Anti-IFN-γ autoantibodies Non-tuberculous mycobacteria 


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Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  • Michelle N. G. Ying
    • 1
  • Emily Yiping Gan
    • 1
  • Jean Aan Mark Koh
    • 1
  1. 1.Dermatology ServiceKK Women’s and Children’s HospitalSingaporeSingapore

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