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Painful Skin Nodules, Prolonged Fever and Cervical Lymphadenopathy

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

Abstract

  • 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

Keywords

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

References

  1. 1.
    Filipe-Santos O, Bustamante J, Chapgier A, Vogt G, de Beaucoudrey L, Feinberg J, Jouanguy E, Boisson-Dupuis S, Fieschi C, Picard C, Casanova JL. Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. Semin Immunol. 2006;18(6):347–61.CrossRefGoogle Scholar
  2. 2.
    Doffinger R, Helbert MR, Barcenas-Morales G, Yang K, Dupuis S, Ceron-Gutierrez L, Espitia-Pinzon C, Barnes N, Bothamley G, Casanova JL, Longhurst HJ, Kumararatne DS. Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity. Clin Infect Dis. 2004;38(1):e10–4.CrossRefGoogle Scholar
  3. 3.
    Hoflich C, Sabat R, Rosseau S, Temmesfeld B, Slevogt H, Docke WD, Grutz G, Meisel C, Halle E, Gobel UB, Volk HD, Suttorp N. Naturally occurring anti-IFN-gamma autoantibody and severe infections with Mycobacterium cheloneae and Burkholderia cocovenenans. Blood. 2004;103(2):673–5.CrossRefGoogle Scholar
  4. 4.
    Browne SK, Burbelo PD, Chetchotisakd P, Suputtamongkol Y, Kiertiburanakul S, Shaw PA, Kirk JL, Jutivorakool K, Zaman R, Ding L, Hsu AP, Patel SY, Olivier KN, Lulitanond V, Mootsikapun P, Anunnatsiri S, Angkasekwinai N, Sathapatayavongs B, Hsueh PR, Shieh CC, Brown MR, Thongnoppakhun W, Claypool R, Sampaio EP, Thepthai C, Waywa D, Dacombe C, Reizes Y, Zelazny AM, Saleeb P, Rosen LB, Mo A, Iadarola M, Holland SM. Adult-onset immunodeficiency in Thailand and Taiwan. N Engl J Med. 2012;367(8):725–34.CrossRefGoogle Scholar
  5. 5.
    Patel SY, Ding L, Brown MR, Lantz L, Gay T, Cohen S, Martyak LA, Kubak B, Holland SM. Anti-IFN-gamma autoantibodies in disseminated nontuberculous mycobacterial infections. J Immunol (Baltimore, MD: 1950). 2005;175(7):4769–76.CrossRefGoogle Scholar
  6. 6.
    Baerlecken N, Jacobs R, Stoll M, Schmidt R, Witte T. Recurrent, multifocal Mycobacterium avium-intercellulare infection in a patient with interferon-gamma autoantibody. Clin Infect Dis. 2009;49(7):e76–8.CrossRefGoogle Scholar
  7. 7.
    Kampmann B, Hemingway C, Stephens A, Davidson R, Goodsall A, Anderson S, Nicol M, Scholvinck E, Relman D, Waddell S, Langford P, Sheehan B, Semple L, Wilkinson KA, Wilkinson RJ, Ress S, Hibberd M, Levin M. Acquired predisposition to mycobacterial disease due to autoantibodies to IFN-gamma. J Clin Invest. 2005;115(9):2480–8.CrossRefGoogle Scholar
  8. 8.
    Wongkulab P, Wipasa J, Chaiwarith R, Supparatpinyo K. Autoantibody to interferon-gamma associated with adult-onset immunodeficiency in non-HIV individuals in Northern Thailand. PLoS One. 2013;8(9):e76371.CrossRefGoogle Scholar
  9. 9.
    Liu TT, Weng SW, Wang MC, Huang WT. Nontuberculous mycobacterial infection with concurrent IgG4-related lymphadenopathy. APMIS. 2016;124(3):216–20.CrossRefGoogle Scholar
  10. 10.
    O’Connell E, Rosen LB, LaRue RW, Fabre V, Melia MT, Auwaerter PG, Holland SM, Browne SK. The first US domestic report of disseminated Mycobacterium avium complex and anti-interferon-gamma autoantibodies. J Clin Immunol. 2014;34(8):928–32.CrossRefGoogle Scholar
  11. 11.
    Hanitsch LG, Lobel M, Muller-Redetzky H, Schurmann M, Suttorp N, Unterwalder N, Monnich U, Meisel C, Wittke K, Volk HD, Scheibenbogen C, Kolsch U. Late-onset disseminated Mycobacterium avium intracellulare complex infection (MAC), cerebral toxoplasmosis and salmonella sepsis in a German caucasian patient with unusual anti-interferon-gamma IgG1 autoantibodies. J Clin Immunol. 2015;35(4):361–5.CrossRefGoogle Scholar
  12. 12.
    Revoltella RP. Natural and therapeutically-induced antibodies to cytokines. Biotherapy (Dordrecht, Netherlands). 1998;10(4):321–31.CrossRefGoogle Scholar
  13. 13.
    Pithukpakorn M, Roothumnong E, Angkasekwinai N, Suktitipat B, Assawamakin A, Luangwedchakarn V, Umrod P, Thongnoppakhun W, Foongladda S, Suputtamongkol Y. HLA-DRB1 and HLA-DQB1 are associated with adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies. PLoS One. 2015;10(5):e0128481.CrossRefGoogle Scholar
  14. 14.
    Chi CY, Chu CC, Liu JP, Lin CH, Ho MW, Lo WJ, Lin PC, Chen HJ, Chou CH, Feng JY, Fung CP, Sher YP, Li CY, Wang JH, Ku CL. Anti-IFN-gamma autoantibodies in adults with disseminated nontuberculous mycobacterial infections are associated with HLA-DRB1∗16:02 and HLA-DQB1∗05:02 and the reactivation of latent varicella-zoster virus infection. Blood. 2013;121(8):1357–66.CrossRefGoogle Scholar
  15. 15.
    C JF, Trendell-Smith N, Chan J, Hung I, Tang B, Cheng V, Yeung C, Yuen K. Reactive and infective dermatoses associated with adult-onset immunodeficiency due to anti-interferon-gamma autoantibody: Sweet’s syndrome and beyond. Dermatology. 2013;226(2):157–66.CrossRefGoogle Scholar
  16. 16.
    Hase I, Morimoto K, Sakagami T, Kazumi Y, Ishii Y, van Ingen J. Disseminated Mycobacterium gordonae and Mycobacterium mantenii infection with elevated anti-IFN-gamma neutralizing autoantibodies. J Infect Chemother. 2015;21(6):468–72.CrossRefGoogle Scholar
  17. 17.
    Browne SK, Zaman R, Sampaio EP, Jutivorakool K, Rosen LB, Ding L, Pancholi MJ, Yang LM, Priel DL, Uzel G, Freeman AF, Hayes CE, Baxter R, Cohen SH, Holland SM. Anti-CD20 (rituximab) therapy for anti-IFN-gamma autoantibody-associated nontuberculous mycobacterial infection. Blood. 2012;119(17):3933–9.CrossRefGoogle Scholar
  18. 18.
    Pruetpongpun N, Khawcharoenporn T, Damronglerd P, Suthiwartnarueput W, Apisarnthanarak A, Rujanavej S, Suwantarat N. Disseminated Talaromyces marneffei and Mycobacterium abscessus in a patient with anti-interferon-gamma autoantibodies. Open Forum Infect Dis. 2016;3(2):ofw093.CrossRefGoogle Scholar

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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