Journal of Clinical Immunology

, Volume 33, Issue 8, pp 1273–1275 | Cite as

A 1-Year-Old Girl with a Gain-of-Function STAT1 Mutation Treated with Hematopoietic Stem Cell Transplantation

  • Juan Carlos Aldave
  • Enrique Cachay
  • Luis Núñez
  • Ausberto Chunga
  • Sergio Murillo
  • Sophie Cypowyj
  • Jacinta Bustamante
  • Anne Puel
  • Jean-Laurent Casanova
  • Armando Koo
Letter to Editor

Notes

Acknowledgments

We thank the patient and her family for the invaluable lessons of life that they gave to us. We acknowledge the members of our laboratories and clinical teams for their important support.

Conflict of Interest

The authors declare that they have no conflict of interest regarding the contents of this article.

References

  1. 1.
    Al-Herz W, Bousfiha A, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, et al. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency. Front Immunol. 2011;2:1–26.CrossRefGoogle Scholar
  2. 2.
    Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med. 2011;208:1635–48.PubMedCrossRefGoogle Scholar
  3. 3.
    Engelhardt K, Grimbacher B. Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects. J Allergy Clin Immunol. 2012;129:294–305.PubMedCrossRefGoogle Scholar
  4. 4.
    Puel A, Cypowyj S, Maródi L, Abel L, Picard C, Casanova JL. Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr Opin Allergy Clin Immunol. 2012;12:616–22.PubMedCrossRefGoogle Scholar
  5. 5.
    van de Veerdonk FL, Plantinga TS, Hoischen A, Smeekens SP, Joosten LA, Gilissen C, et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med. 2011;365:54–61.PubMedCrossRefGoogle Scholar
  6. 6.
    Hori T, Ohnishi H, Teramoto T, Tsubouchi K, Naiki T, Hirose Y, et al. Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. J Clin Immunol. 2012;32:1213–20.PubMedCrossRefGoogle Scholar
  7. 7.
    Puel A, Cypowyj S, Bustamante J, Wright JF, Liu L, Lim HK, et al. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science. 2011;332:65–8.PubMedCrossRefGoogle Scholar
  8. 8.
    Boisson-Dupuis S, Kong XF, Okada S, Cypowyj S, Puel A, Abel L, et al. Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes. Curr Opin Immunol. 2012;24:364–78.PubMedCrossRefGoogle Scholar
  9. 9.
    Hoh MC, Lin HP, Chan LL, Lam SK. Successful allogeneic bone marrow transplantation in severe chronic mucocutaneous candidiasis syndrome. Bone Marrow Transplant. 1996;18:797–800.PubMedGoogle Scholar
  10. 10.
    Deeg HJ, Lum LG, Sanders J, Levy GJ, Sullivan KM, Beatty P, et al. Severe aplastic anemia associated with chronic mucocutaneous candidiasis. Immunologic and hematologic reconstitution after allogeneic bone marrow transplantation. Transplantation. 1986;41:583–6.PubMedCrossRefGoogle Scholar
  11. 11.
    Al Rushood M, McCusker C, Mazer B, Alizadehfar R, Grimbacher B, Depner M, et al. 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. doi:10.1016/j.jpeds.2013.02.040.PubMedGoogle Scholar
  12. 12.
    Hori T, Ohnishi H, Teramoto T, Tsubouchi K, Naiki T, Hirose Y, et al. Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. J Clin Immunol. 2012;32(6):1213–20. doi:10.1007/s10875-012-9744-6.PubMedCrossRefGoogle Scholar
  13. 13.
    Romberg N, Morbach H, Lawrence MG, Kim S, Kang I, Holland SM, et al. Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival. J Allergy Clin Immunol. 2013. doi:10.1016/j.jaci.2013.01.004.PubMedGoogle Scholar
  14. 14.
    Sampaio EP, Hsu AP, Pechacek J, Bax HI, Dias DL, Paulson ML, et al. Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. J Allergy Clin Immunol. 2013. doi:10.1016/j.jaci.2013.01.052.Google Scholar
  15. 15.
    Smeekens SP, Plantinga TS, van de Veerdonk FL, Heinhuis B, Hoischen A, Joosten LA, et al. STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. PLoS One. 2011;6(12):e29248. doi:10.1371/journal.pone.0029248.PubMedCrossRefGoogle Scholar
  16. 16.
    Takezaki S, Yamada M, Kato M, Park MJ, Maruyama K, Yamazaki Y, et al. Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. J Immunol. 2012;189:1521–6.PubMedCrossRefGoogle Scholar
  17. 17.
    Tóth B, Méhes L, Taskó S, Szalai Z, Tulassay Z, Cypowyj S, et al. Herpes in STAT1 gain-of-function mutation. Lancet. 2012;379:2500.PubMedCrossRefGoogle Scholar
  18. 18.
    Uzel G, Sampaio EP, Lawrence MG, Hsu AP, Hackett M, Dorsey MJ, et al. Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. J Allergy Clin Immunol. 2013. doi:10.1016/j.jaci.2012.11.054.Google Scholar
  19. 19.
    Wang X, Lin Z, Gao L, Wang A, Wan Z, Chen W, et al. Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosis. J Allergy Clin Immunol. 2013;131:1242–3.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Juan Carlos Aldave
    • 1
  • Enrique Cachay
    • 1
  • Luis Núñez
    • 1
  • Ausberto Chunga
    • 2
  • Sergio Murillo
    • 3
  • Sophie Cypowyj
    • 4
  • Jacinta Bustamante
    • 5
    • 6
  • Anne Puel
    • 5
  • Jean-Laurent Casanova
    • 4
    • 5
    • 7
  • Armando Koo
    • 1
  1. 1.Allergy and Immunology DivisionHospital Nacional Edgardo Rebagliati MartinsLimaPeru
  2. 2.Histocompatibility LaboratoryHospital Nacional Edgardo Rebagliati MartinsLimaPeru
  3. 3.Hematology DivisionHospital Nacional Edgardo Rebagliati MartinsLimaPeru
  4. 4.St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller BranchThe Rockefeller UniversityNew YorkUSA
  5. 5.Laboratory of Human Genetics of Infectious Diseases, Necker BranchNecker Medical School, INSERM U980 and University Paris DescartesParisFrance
  6. 6.Center for the Study of Primary ImmunodeficienciesAssistance Publique–Hôpitaux de Paris, Hôpital Necker–Enfants MaladesParisFrance
  7. 7.Pediatric Hematology-Immunology UnitNecker Hospital, AP-HP, and University Paris DescartesParisFrance

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