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Hemorrhagic Pneumonia as the First Manifestation of Anhidrotic Ectodermal Dysplasia with Immunodeficiency

  • Yuko Ichimiya
  • Motoshi Sonoda
  • Masataka IshimuraEmail author
  • Shunsuke Kanno
  • Shouichi Ohga
Letter to Editor
  • 16 Downloads

To the Editor:

X-linked anhidrotic ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is a primary immunodeficiency disease (PID) arising from the mutation of IKBKG that encodes NF-κB essential modulator (NEMO). Clinical expressions of the disease are characterized by abnormal teeth, hypohidrosis, sparse hair, and the immunological defects of impaired antibody response to polysaccharides, hypogammaglobulinemia, and impaired natural killer cell cytotoxicity. Patients are susceptible to infections with pyogenic bacteria, mycobacteria, parasites, viruses, and fungi [1]. Inflammatory bowel disease and autoimmunity are notable complications affecting the growth of pediatric patients.

We herein report a young infant who suddenly died of hemorrhagic pneumonia. Isolated pathogens of Stenotrophomonas maltophilia (S. maltophilia), Klebsiella oxytoca (K. oxytoca), and cytomegalovirus suggested an underlying immunodeficiency. Flow cytometric screening indicated the defective production of...

Abbreviations

IL

Interleukin

LPS

Lipopolysaccharide

NEMO

Nuclear factor κB essential modulator

NF-κB

Nuclear factor κB

TNF

Tumor necrosis factor

XL-EDA-ID

X-linked anhidrotic ectodermal dysplasia with immunodeficiency

Notes

Acknowledgments

We sincerely thank Dr. Noriyuki Kaku, Dr. Yoshitomo Motomura, Dr. Katsuhide Eguchi, Dr. Akira Shiraishi, Dr. Kanako Ishii, Prof. Hidetoshi Takada, and Prof. Tomoaki Taguchi for valuable advices. We are grateful to Dr. Yui Nozaki and Prof. Yoshinao Oda for pathological diagnosis. This work was supported in part by Practical Research Project for Rare/Intractable Diseases (JP16ek0109099) and Grant-in-Aids (JP16ek0109098h0002) from the Japan Agency for Medical Research and Development (AMED) and the Research on Measures for Intractable Diseases Project and Health and Labor Sciences Research Grants (Research on Intractable Diseases) from the Ministry of Health, Labour and Welfare.

Authors’ Contribution

The contributions of each author are as follows. YI, MS, MI, and SO were the principal investigators, taking primary responsibility for the paper. MS completed the immunological studies and genetic analysis. MI established the immunological screening, quality control of the tests, and genetic counseling.

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no competing interests.

Supplementary material

References

  1. 1.
    Picard C, Bobby GH, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, et al. International Union of Immunological Societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity. J Clin Immunol. 2018;38:96–128.CrossRefGoogle Scholar
  2. 2.
    Tono C, Takahashi Y, Terui K, Sasaki S, Kamio T, Tandai S, et al. Correction of immunodeficient associated with NEMO mutation by umbilical cord blood transplantation using a reduced-intensity conditioning regimen. Bone Marrow Transplant. 2007;29:801–4.CrossRefGoogle Scholar
  3. 3.
    Orange JS, Levy O, Geha R. Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation. Immunol Rev. 2005;203:21–37.CrossRefGoogle Scholar
  4. 4.
    Windhorst S, Frank E, Georgieva DN, Genov N, Buck F, Borowski P, et al. The major extracellular protease of the nosocomial pathogen Stenotrophomonas maltophilia: characterization of the protein and molecular cloning of the gene. J Biol Chem. 2002;277:11042–9.CrossRefGoogle Scholar
  5. 5.
    Scheich S, Koenig R, Wilke AC, Lindner S, Reinheimer C, Wichelhaus TA, et al. Stenotrophomonas maltophilia colonization during allogeneic hematopoietic stem cell transplantation is associated with impaired survival. PLoS One. 2018;13:e0201169.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Yuko Ichimiya
    • 1
    • 2
  • Motoshi Sonoda
    • 1
  • Masataka Ishimura
    • 1
    Email author
  • Shunsuke Kanno
    • 1
  • Shouichi Ohga
    • 1
  1. 1.Department of Pediatrics, Graduate School of Medical SciencesKyushu UniversityFukuokaJapan
  2. 2.Emergency and Critical Care CenterKyushu UniversityFukuokaJapan

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