Advertisement

Twins with Recurrent Candida Infections

  • Geneviève Genest
  • Moshe Ben-Shoshan
  • Ciriaco A. PiccirilloEmail author
Chapter

Abstract

STAT1 gain-of-function is a heterogeneous disease with broad clinical manifestations namely susceptibility to bacterial infections, recurrent mucocutaneous viral infection with HSV and VZV

The paediatrician must always consider the possibility of malignancy, autoimmunity, as hypothyroidism or type 1 diabetes mellitus and aneurysms when evaluating patients with STAT1 gain-of-function mutations

Keywords

STAT1 Chronic mucocutaneous candidiasis Autoimmunity 

References

  1. 1.
    Green L, Dolen WK. Chronic candidiasis in children. Curr Allergy Asthma Rep. 2017;17(5):31.CrossRefGoogle Scholar
  2. 2.
    Okada S, Puel A, Casanova JL, Kobayashi M. Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity. Clin Transl Immunol. 2016;5(12):e114.CrossRefGoogle Scholar
  3. 3.
    Bonilla FA, Khan DA, Ballas ZK, Chinen J, Frank MM, Hsu JT, Keller M, Kobrynski LJ, Komarow HD, Mazer B, Nelson RP Jr, Orange JS, Routes JM, Shearer WT, Sorensen RU, Verbsky JW, Bernstein DI, Blessing-Moore J, Lang D, Nicklas RA, Oppenheimer J, Portnoy JM, Randolph CR, Schuller D, Spector SL, Tilles S, Wallace D, Joint Task Force on Practice Parameters rtAAoAA, Immunology, the American College of Allergy A, Immunology, the Joint Council of Allergy A, Immunology. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol. 2015;136(5):1186–205 e1–78.CrossRefGoogle Scholar
  4. 4.
    Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachee-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood. 2016;127(25):3154–64.CrossRefGoogle Scholar
  5. 5.
    Depner M, Fuchs S, Raabe J, Frede N, Glocker C, Doffinger R, Gkrania-Klotsas E, Kumararatne D, Atkinson TP, Schroeder HW Jr, Niehues T, Duckers G, Stray-Pedersen A, Baumann U, Schmidt R, Franco JL, Orrego J, Ben-Shoshan M, McCusker C, Jacob CM, Carneiro-Sampaio M, Devlin LA, Edgar JD, Henderson P, Russell RK, Skytte AB, Seneviratne SL, Wanders J, Stauss H, Meyts I, Moens L, Jesenak M, Kobbe R, Borte S, Borte M, Wright DA, Hagin D, Torgerson TR, Grimbacher B. The extended clinical phenotype of 26 patients with chronic mucocutaneous candidiasis due to gain-of-function mutations in STAT1. J Clin Immunol. 2016;36(1):73–84.CrossRefGoogle Scholar
  6. 6.
    Zheng J, van de Veerdonk FL, Crossland KL, Smeekens SP, Chan CM, Al Shehri T, Abinun M, Gennery AR, Mann J, Lendrem DW, Netea MG, Rowan AD, Lilic D. Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC). Eur J Immunol. 2015;45(10):2834–46.CrossRefGoogle Scholar
  7. 7.
    Al Rushood M, McCusker C, Mazer B, Alizadehfar R, Grimbacher B, Depner M, Ben-Shoshan M. Autosomal dominant cases of chronic mucocutaneous candidiasis segregates with mutations of signal transducer and activator of transcription 1, but not of Toll-like receptor 3. J Pediatr. 2013;163(1):277–9.CrossRefGoogle Scholar
  8. 8.
    Traeger-Synodinos J. Pre-implantation genetic diagnosis. Best Pract Res Clin Obstet Gynaecol. 2017;39:74–88.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Geneviève Genest
    • 1
  • Moshe Ben-Shoshan
    • 1
    • 2
  • Ciriaco A. Piccirillo
    • 1
    • 3
    • 4
    • 5
    Email author
  1. 1.McGill University, Montreal General Hospital, Department of Allergy and ImmunologyMontrealCanada
  2. 2.McGill University, Montreal Children’s Hospital, Department of Pediatric Allergy and ImmunologyMontrealCanada
  3. 3.Department of Microbiology and ImmunologyMcGill UniversityMontréalCanada
  4. 4.Program in Infectious Diseases and Immunology in Global Health, Centre for Translational Biology, The Research Institute of the McGill University Health Center (RI-MUHC)MontréalCanada
  5. 5.FOCiS Centre of Excellence in Translational Immunology (CETI)MontréalCanada

Personalised recommendations