Skip to main content

Advertisement

SpringerLink
Log in

Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start?

  • 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

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

References

  1. Barzaghi F, Passerini L, Bacchetta R. Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity. Front Immunol. 2012;3:211.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Seidel MG, Rami B, Item C, et al. Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family. Eur J Endocrinol. 2012;167(1):131–4.

    Article  PubMed  CAS  Google Scholar 

  3. McMurchy AN, Gillies J, Allan SE, et al. Point mutants of forkhead box P3 that cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked have diverse abilities to reprogram T cells into regulatory T cells. J Allergy Clin Immunol. 2010;126(6):1242–51.

    Article  PubMed  CAS  Google Scholar 

  4. Gambineri E, Perroni L, Passerini L, et al. Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity. J Allergy Clin Immunol. 2008;122(6):1105–12 e1101.

    Article  PubMed  CAS  Google Scholar 

  5. Alkhairy OK, Perez-Becker R, Driessen GJ, et al. Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency. J Allergy Clin Immunol. 2015;136:703–712.e10.

    Article  PubMed  CAS  Google Scholar 

  6. Price S, Shaw PA, Seitz A, et al. Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. Blood. 2014;123(13):1989–99.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  7. Holzinger D, Fassl SK, de Jager W, et al. Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases. J Allergy Clin Immunol. 2015;136:1337–45.

    Article  PubMed  CAS  Google Scholar 

  8. Passerini L, Di Nunzio S, Gregori S, et al. Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome. Eur J Immunol. 2011;41(4):1120–31.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  9. Gamez-Diaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, et al. The extended phenotype of LRBA deficiency. J Allergy Clin Immunol. 2016; in press

  10. Kuehn HS, Ouyang W, Lo B, et al. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science. 2014;345(6204):1623–7.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  11. Schubert D, Bode C, Kenefeck R, et al. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med. 2014;20(12):1410–6.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

Download references

Acknowledgments

B. Prietl, A. Raicht, and the laboratory teams of T. Pieber and W. Schwinger, Medical University Graz, are thanked for performing immune phenotypical and functional analyses and for their helpful cooperation.

Authorship

MGS compiled the clinical data of the patients, designed the study, and wrote the manuscript, OAH and KB generated and analyzed laboratory data and edited the final draft.

Author information

Authors and Affiliations

  1. Research Unit for Pediatric Hematology and Immunology, Division of Pediatric Hematology-Oncology, Department of Pediatrics and Adolescent Medicine, Medical University Graz, Auenbruggerpl. 38, A-8036, Graz, Austria

    Markus G. Seidel

  2. CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria

    Kaan Boztug

  3. Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

    Kaan Boztug

  4. Division of Pediatric Hematology-Oncology, St. Anna Children’s Hospital, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

    Oskar A. Haas

Authors
  1. Markus G. Seidel
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Kaan Boztug
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Oskar A. Haas
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Markus G. Seidel.

Ethics declarations

Funding Sources

MGS was in part funded by a grant from “Steirische Kinderkrebshilfe” (grant number A27213004019).

Conflict of Interest

The authors declare no conflict of interest in relation to this manuscript.

Electronic supplementary material

Supplemental Table 1

Laboratory parameters of a 29-years old IPEX patient without immunosuppressive treatment. Values in bold indicate pathologic results. (DOCX 146 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Seidel, M.G., Boztug, K. & Haas, O.A. Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start?. J Clin Immunol 36, 6–7 (2016). https://doi.org/10.1007/s10875-015-0218-5

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10875-015-0218-5

Keywords

Search

Navigation