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Successful haploidentical donor hematopoietic stem cell transplant and restoration of STAT3 function in an adolescent with autosomal dominant hyper-IgE syndrome.

Publication ,  Journal Article
Patel, NC; Gallagher, JL; Torgerson, TR; Gilman, AL
Published in: J Clin Immunol
July 2015

PURPOSE: Autosomal dominant hyper-IgE syndrome (AD-HIES), caused by mutations in Signal Transducer and Activator of Transcription 3 (STAT3) is associated with defective STAT3 signaling and Th17 differentiation and recurrent bacterial and fungal infections. Most patients suffer significant morbidity and premature mortality. Hematopoietic stem cell transplantation (HSCT) has been reported in a small number of cases, with mixed outcomes. We report successful haploidentical donor HSCT in a patient with AD-HIES. METHODS: Evaluation of lymphocyte subsets, STAT3 signaling, and Th17 cells was performed pre- and post-HSCT. RESULTS: A 14-year old female with AD-HIES developed recurrent methicillin-resistant Staphylococcus aureus (MRSA) abscesses. Immunologic analysis showed elevated IgE (4331 kU/L), absent Th17 cells, and markedly decreased STAT3 phosphorylation in cytokine stimulated peripheral blood mononuclear cells. She had breakthrough abscesses despite clindamycin and trimethoprim-sulfamethoxazole prophylaxis, and developed steroid refractory autoimmune hemolytic anemia. She underwent T-cell depleted haploidentical HSCT from her father following reduced intensity conditioning. She developed one MRSA hand abscess after transplant. Twenty-four months post transplant, she had complete donor chimerism (>95 % donor), normal absolute T cell numbers, and a normal percentage of Th17 cells. IgE was normal at 25 kU/L. She remains well 42 months after transplantation off all antibacterial prophylaxis. CONCLUSIONS: Haploidentical HSCT led to successful bone marrow engraftment, normalization of STAT3 signaling in hematopoietic cells, normalization of IgE, and restoration of immune function in this patient with AD-HIES.

Duke Scholars

Published In

J Clin Immunol

DOI

EISSN

1573-2592

Publication Date

July 2015

Volume

35

Issue

5

Start / End Page

479 / 485

Location

Netherlands

Related Subject Headings

  • Treatment Outcome
  • Tissue Donors
  • Th17 Cells
  • Signal Transduction
  • STAT3 Transcription Factor
  • Mutation
  • Job Syndrome
  • Infections
  • Immunology
  • Humans
 

Citation

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ICMJE
MLA
NLM
Patel, N. C., Gallagher, J. L., Torgerson, T. R., & Gilman, A. L. (2015). Successful haploidentical donor hematopoietic stem cell transplant and restoration of STAT3 function in an adolescent with autosomal dominant hyper-IgE syndrome. J Clin Immunol, 35(5), 479–485. https://doi.org/10.1007/s10875-015-0167-z
Patel, N. C., J. L. Gallagher, T. R. Torgerson, and A. L. Gilman. “Successful haploidentical donor hematopoietic stem cell transplant and restoration of STAT3 function in an adolescent with autosomal dominant hyper-IgE syndrome.J Clin Immunol 35, no. 5 (July 2015): 479–85. https://doi.org/10.1007/s10875-015-0167-z.
Patel, N. C., et al. “Successful haploidentical donor hematopoietic stem cell transplant and restoration of STAT3 function in an adolescent with autosomal dominant hyper-IgE syndrome.J Clin Immunol, vol. 35, no. 5, July 2015, pp. 479–85. Pubmed, doi:10.1007/s10875-015-0167-z.
Journal cover image

Published In

J Clin Immunol

DOI

EISSN

1573-2592

Publication Date

July 2015

Volume

35

Issue

5

Start / End Page

479 / 485

Location

Netherlands

Related Subject Headings

  • Treatment Outcome
  • Tissue Donors
  • Th17 Cells
  • Signal Transduction
  • STAT3 Transcription Factor
  • Mutation
  • Job Syndrome
  • Infections
  • Immunology
  • Humans