Successful allogeneic hematopoietic stem cell transplantation in a boy with X-linked inhibitor of apoptosis deficiency presenting with hemophagocytic lymphohistiocytosis: A case report

Jiang,Ming‑Yan; Guo,Xia; Sun,Shu‑Wen; Li,Qiang; Zhu,Yi‑Ping

doi:10.3892/etm.2016.3498

September-2016 Volume 12 Issue 3

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September-2016 Volume 12 Issue 3

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Case Report Open Access

Successful allogeneic hematopoietic stem cell transplantation in a boy with X-linked inhibitor of apoptosis deficiency presenting with hemophagocytic lymphohistiocytosis: A case report

Authors:
- Ming‑Yan Jiang
- Xia Guo
- Shu‑Wen Sun
- Qiang Li
- Yi‑Ping Zhu
View Affiliations / Copyright

Affiliations: Department of Pediatric Hematology and Oncology, West China Second University Hospital of Sichuan University, Chengdu, Sichuan 610041, P.R. China

Copyright: © Jiang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
Pages: 1341-1344
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Published online on: July 4, 2016

https://doi.org/10.3892/etm.2016.3498
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Abstract

X‑linked inhibitor of apoptosis (XIAP) deficiency, also known as X-linked lymphoproliferative syndrome type 2 (XLP2), is a rare inherited primary immunodeficiency resulting from the XIAP (also known as BIRC4) mutation. XIAP deficiency is mainly associated with familial hemophagocytic lymphohistiocytosis (HLH) phenotypes, and genetic testing is crucial in diagnosing this syndrome. Allogeneic hematopoietic stem cell transplantation (HSCT) is currently the only successful strategy for the treatment of this disease; however, a limited number of studies has been published concerning the outcomes of allogeneic HSCT in patients with XIAP deficiency. The present study reported a successful allogeneic HSCT performed to treat XIAP deficiency in a Chinese boy presenting with HLH. Polymerase chain reaction and DNA sequencing were performed to confirm the diagnosis of XIAP deficiency, and allogeneic HSCT was performed. Genetic tests revealed a two‑nucleotide deletion (c.1021_1022delAA) in the patient, which was inherited from his mother, and resulted in frameshift mutation and premature stop codon (p.N341fsX348); this is considered to be a disease‑causing mutation. The XIAP deficiency patient underwent allogeneic HSCT, receiving busulfan‑containing reduced intensity myeloablative conditioning regimen, with a good intermediate follow‑up result obtained. Therefore, genetic testing is essential to confirm the diagnosis of XIAP deficiency and detect the carrier of mutation. The present case study may promote the investigation of allogeneic HSCT in patients with XIAP deficiency.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Successful allogeneic hematopoietic stem cell transplantation in a boy with X-linked inhibitor of apoptosis deficiency presenting with hemophagocytic lymphohistiocytosis: A case report

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