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2020•World Journal of Clinical CasesOpen access

Early-onset refractory diarrhea due to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with a novel mutation in the FOXP3 gene: A case report

Na Su, Cheng Chen, Xia Zhou, Guoda Ma, Ri-Ling Chen, Chuan Tian

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Abstract

BACKGROUND: regulatory T (Treg) cells. The dysfunction of these cells leads to multiple system autoimmune diseases. We present a case of IPEX due to a mutation not reported in the literature before. CASE SUMMARY: gene, which has not been previously reported. The patient remains on prednisone and euthyrox while awaiting hematopoietic stem cell transplantation at the time of the compilation of this case report. CONCLUSION: gene mutation involved in IPEX. A high level of suspicion should be maintained in an early-onset refractory diarrhea patient.

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BACKGROUND: regulatory T (Treg) cells. The dysfunction of these cells leads to multiple system autoimmune diseases. We present a case of IPEX due to a mutation not reported in the literature before. CASE SUMMARY: gene, which has not been previously reported. The patient remains on prednisone and euthyrox while awaiting hematopoietic stem cell transplantation at the time of the compilation of this case report. CONCLUSION: gene mutation involved in IPEX. A high level of suspicion should be maintained in an early-onset refractory diarrhea patient.

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Available abstract

BACKGROUND: regulatory T (Treg) cells. The dysfunction of these cells leads to multiple system autoimmune diseases. We present a case of IPEX due to a mutation not reported in the literature before. CASE SUMMARY: gene, which has not been previously reported. The patient remains on prednisone and euthyrox while awaiting hematopoietic stem cell transplantation at the time of the compilation of this case report. CONCLUSION: gene mutation involved in IPEX. A high level of suspicion should be maintained in an early-onset refractory diarrhea patient.

Key concepts: Immune dysregulation, Medicine, Enteropathy, Failure to thrive, Immunology, FOXP3, Diarrhea, Primary immunodeficiency

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Early-onset refractory diarrhea due to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with a novel mutation in the FOXP3 gene: A case report — Research Paper | ScholarLens