Journal of Clinical Immunology

, Volume 36, Issue 1, pp 6–7 | Cite as

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

  • Markus G. SeidelEmail author
  • Kaan Boztug
  • Oskar A. Haas
Letter to Editor

To the Editor

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome results from loss-of-function mutations affecting FOXP3, the master transcription factor in regulatory T (Treg) cells and causes intractable diarrhea, early-onset type 1 diabetes mellitus, other autoimmune diseases including cytopenias, and immunodeficiency, usually taking a life-threatening course during the first year of life ( reviewed in [ 1]). Allogeneic hematopoietic stem cell transplantation is the current treatment of choice for IPEX syndrome. There is no consistent genotype-phenotype association, although mutations that yield residual protein function may generally cause a milder phenotype [ 1]. Here, we present the self-attenuating course of a now 29-year-old patient with IPEX syndrome due to a mutation in the FOXP3 forkhead domain (c.1040G > A; p.R347H; reported previously with shorter follow-up) [ 2]. After suffering from typical symptoms (diarrhea from infancy, autoimmune hepatitis...


Autoimmune Hepatitis Allogeneic Hematopoietic Stem Cell Transplantation Treg Function CD27 Deficiency Intractable Diarrhea 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



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.


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.

Compliance with Ethical Standards

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.

Supplementary material

10875_2015_218_MOESM1_ESM.docx (147 kb)
Supplemental Table 1 Laboratory parameters of a 29-years old IPEX patient without immunosuppressive treatment. Values in bold indicate pathologic results. (DOCX 146 kb)


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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Research Unit for Pediatric Hematology and Immunology, Division of Pediatric Hematology-Oncology, Department of Pediatrics and Adolescent MedicineMedical University GrazGrazAustria
  2. 2.CeMM Research Center for Molecular Medicine of the Austrian Academy of SciencesViennaAustria
  3. 3.Department of Pediatrics and Adolescent MedicineMedical University of ViennaViennaAustria
  4. 4.Division of Pediatric Hematology-Oncology, St. Anna Children’s Hospital, Department of Pediatrics and Adolescent MedicineMedical University of ViennaViennaAustria

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