Skip to main content

Advertisement

Springer Nature Link
Log in

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

  • Letter to Editor
  • Published:
Journal of Clinical Immunology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Subscribe and save

Springer+ Basic
$34.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or eBook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Price includes VAT (Canada)

Instant access to the full article PDF.

Institutional subscriptions

References

  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.

    Article  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  3. Engelhardt K, Grimbacher B. Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects. J Allergy Clin Immunol. 2012;129:294–305.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    PubMed  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    PubMed  Google Scholar 

  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. 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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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. 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.

    Article  PubMed  CAS  Google Scholar 

Download references

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.

Author information

Authors and Affiliations

  1. Allergy and Immunology Division, Hospital Nacional Edgardo Rebagliati Martins, Calle Manuel Candamo 257, Lince, Lima, Peru

    Juan Carlos Aldave, Enrique Cachay, Luis Núñez & Armando Koo

  2. Histocompatibility Laboratory, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru

    Ausberto Chunga

  3. Hematology Division, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru

    Sergio Murillo

  4. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA

    Sophie Cypowyj & Jean-Laurent Casanova

  5. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, INSERM U980 and University Paris Descartes, Paris, France

    Jacinta Bustamante, Anne Puel & Jean-Laurent Casanova

  6. Center for the Study of Primary Immunodeficiencies, Assistance Publique–Hôpitaux de Paris, Hôpital Necker–Enfants Malades, Paris, France

    Jacinta Bustamante

  7. Pediatric Hematology-Immunology Unit, Necker Hospital, AP-HP, and University Paris Descartes, Paris, France

    Jean-Laurent Casanova

Authors
  1. Juan Carlos Aldave
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Enrique Cachay
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Luis Núñez
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Ausberto Chunga
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Sergio Murillo
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Sophie Cypowyj
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Jacinta Bustamante
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Anne Puel
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Jean-Laurent Casanova
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Armando Koo
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Juan Carlos Aldave.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Aldave, J.C., Cachay, E., Núñez, L. et al. A 1-Year-Old Girl with a Gain-of-Function STAT1 Mutation Treated with Hematopoietic Stem Cell Transplantation. J Clin Immunol 33, 1273–1275 (2013). https://doi.org/10.1007/s10875-013-9947-5

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10875-013-9947-5

Keywords

Search

Navigation