Advertisement

Recurrent Cold Suppurative Granulomatous Lymphadenitis

  • Giuliana Giardino
  • Emilia Cirillo
  • Vera Gallo
  • Claudio PignataEmail author
Chapter

Abstract

Cold abscesses are a hallmark of defects of the innate immune system including hyper-IgE syndrome and chronic granulomatous disease

MyD88 is a molecular adaptor acting downstream to all TLR, except TLR3, and downstream to IL-1R

MyD88 deficiency is associated with selective increased susceptibility to invasive pyogenic bacterial infections

Low fever and mild increase of systemic inflammatory markers in contrast with a severe clinical course of infectious diseases should rise the suspicion of MyD88 deficiency

Keywords

Cold abscesses Lymphadenitis MyD88 

References

  1. 1.
    Johnston SL. Clinical immunology review series: an approach to the patient with recurrent superficial abscesses. Clin Exp Immunol. 2008;152(3):397–405.CrossRefGoogle Scholar
  2. 2.
    Joshi N, Caputo GM, Weitekamp MR, Karchmer AW. Infections in patients with diabetes mellitus. N Engl J Med. 1999;341(25):1906–12.CrossRefGoogle Scholar
  3. 3.
    Ephgrave K. Extra-intestinal manifestations of Crohn’s disease. Surg Clin North Am. 2007;87(3):673–80.CrossRefGoogle Scholar
  4. 4.
    Giardino G, Cicalese MP, Delmonte O, Migliavacca M, Palterer B, Loffredo L, Cirillo E, Gallo V, Violi F, Pignata C. NADPH Oxidase deficiency: a multisystem approach. Oxidative Med Cell Longev. 2017;2017:23.CrossRefGoogle Scholar
  5. 5.
    Dinauer MC. Primary immune deficiencies with defects in neutrophil function. Hematology Am Soc Hematol Educ Program. 2016;2016(1):43–50.CrossRefGoogle Scholar
  6. 6.
    Moin A, Farhoudi A, Moin M, Pourpak Z, Bazargan N. Cutaneous manifestations of primary immunodeficiency diseases in children. Iran J Allergy Asthma Immunol. 2006;5(3):121–6.PubMedGoogle Scholar
  7. 7.
    Reda SM, El-Ghoneimy DH, Afifi HM. Clinical predictors of primary immunodeficiency diseases in children. Allergy, Asthma Immunol Res. 2013;5(2):88–95.CrossRefGoogle Scholar
  8. 8.
    Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, Miller JA, O'Connell AC, Puck JM. Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. N Engl J Med. 1999;340(9):692–702.CrossRefGoogle Scholar
  9. 9.
    Marciano BE, Zerbe CS, Falcone EL, Ding L, DeRavin SS, Daub J, Kreuzburg S, Yockey L, Hunsberger S, Foruraghi L, Barnhart LA, Matharu K, Anderson V, Darnell DN, Frein C, Fink DL, Lau KP, Long Priel DA, Gallin JI, Malech HL, Uzel G, Freeman AF, Kuhns DB, Rosenzweig SD, Holland SM. X-linked carriers of chronic granulomatous disease: illness, lyonization, and stability. J Allergy Clin Immunol. 2018;141(1):365–37.CrossRefGoogle Scholar
  10. 10.
    Conway DH, Dara J, Bagashev A, Sullivan KE. Myeloid differentiation primary response gene 88 (MyD88) deficiency in a large kindred. J Allergy Clin Immunol. 2010;126(1):172–5.CrossRefGoogle Scholar
  11. 11.
    Picard C, Casanova JL, Puel A. Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IkappaBalpha deficiency. Clin Microbiol Rev. 2011;24(3):490–7.CrossRefGoogle Scholar
  12. 12.
    Picard C, von Bernuth H, Ghandil P, Chrabieh M, Levy O, Arkwright PD, McDonald D, Geha RS, Takada H, Krause JC, Creech CB, Ku CL, Ehl S, Marodi L, Al-Muhsen S, Al-Hajjar S, Al-Ghonaium A, Day-Good NK, Holland SM, Gallin JI, Chapel H, Speert DP, Rodriguez-Gallego C, Colino E, Garty BZ, Roifman C, Hara T, Yoshikawa H, Nonoyama S, Domachowske J, Issekutz AC, Tang M, Smart J, Zitnik SE, Hoarau C, Kumararatne DS, Thrasher AJ, Davies EG, Bethune C, Sirvent N, de Ricaud D, Camcioglu Y, Vasconcelos J, Guedes M, Vitor AB, Rodrigo C, Almazan F, Mendez M, Arostegui JI, Alsina L, Fortuny C, Reichenbach J, Verbsky JW, Bossuyt X, Doffinger R, Abel L, Puel A, Casanova JL. Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. Medicine. 2010;89(6):403–25.CrossRefGoogle Scholar
  13. 13.
    von Bernuth H, Picard C, Jin Z, Pankla R, Xiao H, Ku CL, Chrabieh M, Mustapha IB, Ghandil P, Camcioglu Y, Vasconcelos J, Sirvent N, Guedes M, Vitor AB, Herrero-Mata MJ, Arostegui JI, Rodrigo C, Alsina L, Ruiz-Ortiz E, Juan M, Fortuny C, Yague J, Anton J, Pascal M, Chang HH, Janniere L, Rose Y, Garty BZ, Chapel H, Issekutz A, Marodi L, Rodriguez-Gallego C, Banchereau J, Abel L, Li X, Chaussabel D, Puel A, Casanova JL. Pyogenic bacterial infections in humans with MyD88 deficiency. Science (New York, NY). 2008;321(5889):691–6.CrossRefGoogle Scholar
  14. 14.
    Giardino G, Gallo V, Somma D, Farrow EG, Thiffault I, D’Assante R, Donofrio V, Paciolla M, Ursini MV, Leonardi A, Saunders CJ, Pignata C. Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis. J Allergy Clin Immunol. 2016;137(5):1591–5.e4.CrossRefGoogle Scholar
  15. 15.
    von Bernuth H, Picard C, Puel A, Casanova JL. Experimental and natural infections in MyD88- and IRAK-4-deficient mice and humans. Eur J Immunol. 2012;42(12):3126–35.CrossRefGoogle Scholar
  16. 16.
    Troutman TD, Bazan JF, Pasare C. Toll-like receptors, signaling adapters and regulation of the pro-inflammatory response by PI3K. Cell Cycle. 2012;11(19):3559–67.CrossRefGoogle Scholar
  17. 17.
    Bouma G, Doffinger R, Patel SY, Peskett E, Sinclair JC, Barcenas-Morales G, Cerron-Gutierrez L, Kumararatne DS, Davies EG, Thrasher AJ, Burns SO. Impaired neutrophil migration and phagocytosis in IRAK-4 deficiency. Br J Haematol. 2009;147(1):153–6.CrossRefGoogle Scholar
  18. 18.
    Weller S, Bonnet M, Delagreverie H, Israel L, Chrabieh M, Marodi L, Rodriguez-Gallego C, Garty BZ, Roifman C, Issekutz AC, Zitnik SE, Hoarau C, Camcioglu Y, Vasconcelos J, Rodrigo C, Arkwright PD, Cerutti A, Meffre E, Zhang SY, Alcais A, Puel A, Casanova JL, Picard C, Weill JC, Reynaud CA. IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients. Blood. 2012;120(25):4992–5001.CrossRefGoogle Scholar
  19. 19.
    Maglione PJ, Simchoni N, Black S, Radigan L, Overbey JR, Bagiella E, Bussel JB, Bossuyt X, Casanova JL, Meyts I, Cerutti A, Picard C, Cunningham-Rundles C. IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigens. Blood. 2014;124(24):3561–71.CrossRefGoogle Scholar
  20. 20.
    Wolpert J, Knutsen AP. Natural history of selective antibody deficiency to bacterial polysaccharide antigens in children. Pediatr Asthma Allergy Immunol. 1998;12(3):183–91.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Giuliana Giardino
    • 1
  • Emilia Cirillo
    • 1
  • Vera Gallo
    • 1
  • Claudio Pignata
    • 1
    Email author
  1. 1.Department of Translational Medical Sciences, Unit of ImmunologyFederico II University of NaplesNaplesItaly

Personalised recommendations