Correction of immunodeficiency associated with NEMO mutation by umbilical cord blood transplantation using a reduced-intensity conditioning regimen (original) (raw)

Bone Marrow Transplantation volume 39, pages 801–804 (2007)Cite this article

X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is a developmental and immunologic disorder caused by hypomorphic mutations in the nuclear factor-_κ_B (NF-_κ_B) essential modulator (NEMO) gene on the X chromosome.1, 2, 3 NEMO is the regulatory subunit of the I_κ_B kinase (IKK) complex, which phosphorylates and degrades NF-κ_B inhibitor α (I_κ_B_α), causing NF-_κ_B activation. Following the identification of amorphic NEMO mutations causing familial incontinentia pigmenti (IP), hypomorphic mutations in NEMO have been identified in XL-EDA-ID patients. Affected boys have sparse hair, eccrine sweat gland dysgenesis, characteristic facies, few, conical teeth and sometimes severe intestinal problems. They are also susceptible to infection with various microorganisms.1, 2, 3, 4 Stem cell transplantation (SCT) is thought to be the only curative treatment. However, there have been no clinical reports of successful SCT in XL-EDA-ID patients, and most patients die before maturity. In this report, we describe the first successful SCT in an XL-EDA-ID patient, who underwent unrelated umbilical cord blood transplantation (UCBT) after a reduced-intensity conditioning (RIC) regimen.

The patient was a 3-year-old boy. His mother, maternal grandmother and grandmother's sister had been diagnosed with IP. His maternal uncle died from a disorder of unknown etiology when he was 1 month old. At 2 months, the patient had an episode of Klebsiella pneumoniae sepsis and was referred to our hospital. He had mild facial dysmorphy with relative frontal bossing and depressed nasal bridge and had anhidrotic skin. Laboratory examination showed hypogammaglobulinemia, low NK cell activity and high numbers of B cells. A skin biopsy revealed the absence of eccrine sweat glands.

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Authors and Affiliations

  1. Department of Pediatrics, Hirosaki University School of Medicine, Hirosaki, Japan
    C Tono, Y Takahashi, K Terui, S Sasaki, T Kamio, S Tandai, T Sato, K Kudo, T Toki & E Ito
  2. Department of Pediatrics and Transfusion Medicine, Aomori Prefectural Central Hospital, Aomori, Japan
    N Tachibana
  3. Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan
    T Yoshioka, T Nakahata & R Nishikomori
  4. Department of Pediatrics and Developmental Biology, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan
    T Morio

Authors

  1. C Tono
  2. Y Takahashi
  3. K Terui
  4. S Sasaki
  5. T Kamio
  6. S Tandai
  7. T Sato
  8. K Kudo
  9. T Toki
  10. N Tachibana
  11. T Yoshioka
  12. T Nakahata
  13. T Morio
  14. R Nishikomori
  15. E Ito

Corresponding author

Correspondence toE Ito.

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Tono, C., Takahashi, Y., Terui, K. et al. Correction of immunodeficiency associated with NEMO mutation by umbilical cord blood transplantation using a reduced-intensity conditioning regimen.Bone Marrow Transplant 39, 801–804 (2007). https://doi.org/10.1038/sj.bmt.1705658

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