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Split Immunological Reconstitution in a NEMO-Deficient Male with Incontinentia Pigmenti and Immunodeficiency

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Fig. 1

Data Availability

Data is available upon reasonable request to the corresponding author.

Abbreviations

IP:

Incontinentia pigmenti

EDA-ID:

Anhidrotic ectodermal dysplasia with immunodeficiency

NEMO:

Nuclear factor κB essential modulator

IKBKG:

Inhibitor of kappa light polypeptide gene enhancer in B cells, kinase gamma

IP-EDA-ID:

IP and EDA-ID

rr:

Reference range

PBMCs:

Peripheral blood mononuclear cells

TNF:

Tumor necrosis factor

LPS:

Lipopolysaccharide

IVIG:

Intravenous immunoglobulin

References

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Acknowledgements

We sincerely thank Prof. Hidetoshi Takada (Department of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan) and Dr. Osamu Ohara (Department of Applied Genomics, Kazusa DNA Research Institute, Kisarazu, Japan) for helpful discussion in practice. We are grateful to Dr. Makiko Kido-Nakahara (Department of Dermatology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan) and Dr. Yoshihiro Ohishi (Department of Diagnostic Pathology, Iizuka Hospital, Fukuoka, Japan) for providing the diagnostic supports.

Funding

This work was supported in part by a Grant-in-Aid (20FC1053) from the Health and Labor Sciences Research Grants (research on intractable diseases) from the Ministry of Health, Labour, and Welfare of Japan.

Author information

Authors and Affiliations

  1. Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, 812-8582, Fukuoka, Japan

    Motoshi Sonoda, Masataka Ishimura, Reina Ogata & Shouichi Ohga

  2. Department of Pediatrics, National Hospital Organization Kokura Medical Center, Kokura, Japan

    Reina Ogata

  3. Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan

    Hirotsugu Oda

  4. Cologne Excellence Cluster On Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany

    Hirotsugu Oda

  5. Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany

    Hirotsugu Oda

Authors
  1. Motoshi Sonoda
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  2. Masataka Ishimura
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  3. Reina Ogata
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  4. Hirotsugu Oda
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  5. Shouichi Ohga
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Contributions

The contributions of each author are as follows. MS, MI, and SO were the principal investigators, taking primary responsibility for the paper. RO performed the clinical management with helpful discussion regarding the completion of the work. MS performed the functional analysis. HO completed the genetic analysis.

Corresponding author

Correspondence to Masataka Ishimura.

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Ethics Approval

The patients and family members were studied after their informed consent was obtained. This study was certified by the Institutional Review Board of Kyushu University (no. 531–03).

Consent to Participate

Written informed consent for publication of their clinical details and images was obtained from the parent relative of the patient. A copy of the consent form is available for review by the Editor of this journal.

Consent for Publication

Written informed consent for publication of their clinical details and images was obtained from the parent relative of the patient. A copy of the consent form is available for review by the Editor of this journal.

Conflict of Interest

The authors declare no competing interests.

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Sonoda, M., Ishimura, M., Ogata, R. et al. Split Immunological Reconstitution in a NEMO-Deficient Male with Incontinentia Pigmenti and Immunodeficiency. J Clin Immunol 43, 1743–1746 (2023). https://doi.org/10.1007/s10875-023-01543-2

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  • DOI: https://doi.org/10.1007/s10875-023-01543-2

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