Journal of Clinical Immunology

, Volume 37, Issue 5, pp 413–414 | Cite as

A Stable Mixed Chimera After SCT with RIC in an Infant with IκBα Hypermorphic Mutation

  • Masayuki NagasawaEmail author
  • Teppei Ohkawa
  • Masatoshi Takagi
  • Kohsuke Imai
  • Tomohiro Morio
Letter to Editor

To the Editor:

Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is a rare severe form of immunodeficiency, which shows deficits in both the innate and acquired immunity because of the impaired NF-κβ signal transduction pathway [1]. There are two types of EDA-ID, one is an X-linked form with a defect in the IKBKG gene, and another is an autosomal dominant form with a defect in the IKBA gene. The latter involves a more severe defect and leads to intractable infections soon after birth. Patients are severely ill when the diagnosis is made and are rarely tolerant of a stem cell transplant (SCT) [2]. We treated a severely malnourished infant with an autosomal dominant form of anhidrotic ectodermal dysplasia with immunodeficiency (AD-IDA-ID) who responded well to a stem cell transplant with a reduced-intensity conditioning (RIC) regimen and developed properly with a stable low donor chimerism for more than 5 years.

He was born healthy at 41 weeks of gestational age with a...


Tacrolimus Stem Cell Transplant Conditioning Regimen Donor Chimerism Mixed Chimerism 
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.


Compliance with Ethical Standards

Conflict of Interests

The authors declare that they have no conflict of interests.

Supplementary material

10875_2017_375_MOESM1_ESM.pptx (108 kb)
Supplemental Figure 1 Chimerism analysis of the peripheral white blood cell subpopulation at 457 days after the stem cell transplant. Granulocytes were obtained by depleting the mononuclear cells by a gradient-based centrifugation method. T cells, B cells, NK cells, and macrophages were successfully isolated from the mononuclear cells by means of anti-CD3, anti-CD19, anti-CD56, and anti-CD14 antibodies-conjugated immunomagnetic beads. DNA of each microsatellite region (D12S391, D16S3253, and D8S1179) was amplified by PCR, and the amplicons were separated by electrophoresis. As a control, white blood cells before SCT and scratched cells from a buccal membrane were analyzed. (PPTX 108 kb).
10875_2017_375_MOESM2_ESM.pptx (97 kb)
Supplemental Figure 2 TNF-α production of monocytes still impared after SCT. TNF-α production assay was performed 1 year after SCT. Peripheral blood mononuclear cells (PBMNCs) were stimulated with LPS (1.0 μg/mL), and expression of intracellular TNF-α was assayed by flow cytometry 4 h later. (PPTX 97.4 kb).
10875_2017_375_MOESM3_ESM.pdf (117 kb)
Supplemental Figure 3 The growth chart of the patient. Each bar represents the value of height and weight from the Japanese national database. After SCT, the patient’s growth recovered and caught up. SD means standard deviation. (PDF 116 kb).
10875_2017_375_MOESM4_ESM.pptx (52 kb)
Supplemental Table 1 Lymphocyte subpopulation before and after SCT. Lymphocyte subpopulation was evaluated before and after SCT by flow cytometry. (PPTX 51.7 kb).
10875_2017_375_MOESM5_ESM.pptx (51 kb)
Supplemental Table 2 Changes in a proliferative response to mitogens. Proliferative responses of peripheral lymphocytes to phytohemagglutinin (PHA) and concanavalin A (ConA) were sequentially monitored before and after the stem cell transplant. S.I. means stimulation index and n.a. not applicable. (PPTX 50.6 kb).
10875_2017_375_MOESM6_ESM.pptx (57 kb)
Supplemental Table 3 Specific antibody production after vaccination in the patient. (PPTX 56.9 kb).
10875_2017_375_MOESM7_ESM.pptx (52 kb)
Supplemental Table 4 The improved developmental score on the Kyodaishiki developmental scale*. *Atsushi Nakase, Test Item “Repetition of Figures” in the Kyoto Scale of Psychological Development: (Part 1) Data on Young Children in a Face-to-Face Test [in Japanese] Scientific Reports of Kyoto Prefectural University 1990;42: 161–182. (PPTX 51.7 kb).


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Copyright information

© Springer Science+Business Media New York 2017

Authors and Affiliations

  • Masayuki Nagasawa
    • 1
    • 2
    Email author
  • Teppei Ohkawa
    • 1
    • 2
  • Masatoshi Takagi
    • 1
  • Kohsuke Imai
    • 1
  • Tomohiro Morio
    • 1
  1. 1.Department of Pediatrics and Developmental BiologyTokyo Medical and Dental UniversityTokyoJapan
  2. 2.Department of PediatricsMusashino Red Cross HospitalTokyoJapan

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