Skip to main content

Advertisement

Log in

Unusual Manifestations of APECED

  • 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

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

Instant access to the full article PDF.

Availability of Data and Material

Data sharing is not applicable to this article as no datasets were generated or analyzed during the current study.

References

  1. Oftedal BE, Hellesen A, Erichsen MM, Bratland E, Vardi A, Perheentupa J, et al. Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases. Immunity. 2015;42(6):1185–96.

    Article  CAS  PubMed  Google Scholar 

  2. Ferré EMN, Schmitt MM, Lionakis MS. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Front Pediatr. 2021;9:723532.

    Article  PubMed  PubMed Central  Google Scholar 

  3. Meager A, Visvalingam K, Peterson P, Möll K, Murumägi A, Krohn K, et al. Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1. PLoS Med. 2006;3(7): e289.

    Article  PubMed  PubMed Central  Google Scholar 

  4. Kopczak A, Schumacher AM, Nischwitz S, Kümpfel T, Stalla GK, Auer MK. GAD antibody-associated limbic encephalitis in a young woman with APECED. Endocrinol Diabetes Metab Case Rep. 2017;2017(1):17–0010.

    PubMed  PubMed Central  Google Scholar 

  5. Kawano G, Yokochi T, Nishikomori R, Watanabe Y, Ohbu K, Takahashi Y, et al. Case Report: rituximab improved epileptic spasms and EEG abnormalities in an infant with west syndrome and anti-NMDAR encephalitis associated with APECED. Front Neurol. 2021;12:679164.

    Article  PubMed  PubMed Central  Google Scholar 

  6. Bastard P, Orlova E, Sozaeva L, Lévy R, James A, Schmitt MM, et al. Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1. J Exp Med. 2021;218(7):e20210554.

Download references

Acknowledgements

We wish to acknowledge Professor Anne Puel (Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France) for performing the patient’s anti-cytokine antibody assays.

Author information

Authors and Affiliations

Authors

Contributions

Isabelle Bosi prepared the first draft of this manuscript and contributed to all subsequent revisions. Wui-Kwan contributed important secondary draft revisions relating to the neurological presentation. Shekeeb Mohammad, Peter Hsu, and Philip Britton contributed equally to editing and supervision. All authors read and approved of the final version.

Corresponding author

Correspondence to Isabelle Bosi.

Ethics declarations

Ethics Approval

This publication was approved by the Sydney Children’s Hospital Human Research Ethics Committee (project number CCR2023/13).

Consent to Participate

Written, informed consent was obtained from the subject’s parents.

Consent for Publication

The authors affirm that the subject’s parents provided informed consent to publish this case.

Competing Interests

The authors declare no competing interests.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Bosi, I., Wong, WK., Mohammad, S. et al. Unusual Manifestations of APECED. J Clin Immunol 44, 33 (2024). https://doi.org/10.1007/s10875-023-01647-9

Download citation

  • Received:

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1007/s10875-023-01647-9

Navigation