Successful haploidentical stem cell transplantation for three adults with primary hemophagocytic lymphohistiocytosis

Access through your institution Buy or subscribe Hemophagocytic lymphohistiocytosis (HLH), a life-threatening hyper-inflammation syndrome, is classified into primary and secondary forms.1

Primary HLH is caused by gene mutations (_PRF1, UNC13D, STX11, STXBP2, RAB27A, LYST_ and _AP3B1_) resulting in impaired cytotoxicity of natural killer (NK) cells and cytotoxic T lymphocytes.

HLH also presents in immunodeficiencies driven by uncontrolled EBV infection, which include X-linked lymphoproliferative syndrome (XLP) 1, XLP2, ITK deficiency and CD27 deficiency, caused

by defects in _SH2D1A, BIRC4, ITK_ and _CD27_, respectively. Secondary HLH often occurs in adults and is associated with various conditions. Primary HLH can occur at any age, although it

predominately affects pediatric patients. In contrast to the well-documented efficacy of allogeneic hematopoietic stem cell transplantation (HSCT) in pediatric HLH, the role of HSCT in adult

HLH is unclear.2 In particular, few reports address the treatment of adult primary HLH with haploidentical HSCT. All three patients presented with a high fever as their initial clinical

feature. Anti-infection treatments had no effect. HLH was suspected based on laboratory findings including liver and coagulation function abnormalities, elevated serum ferritin and decreased

NK-cell activity. Diagnosis of primary HLH was confirmed by mutations detected in HLH-associated genes (Table 1). Representative results from a genetic test for patient 2 and his family are

presented in Figure 1. Patients 1 and 2 were found to have an EBV infection on admission. Their blood EBV-DNA load became negative during induction therapy. All patients achieved remission

at HSCT. Their clinical features were significantly improved after HSCT (data not shown). All patients demonstrated complete chimerism on day +20. No patient developed graft rejection or

underwent a second transplant if donor chimerism remained complete after day +20. The acute GvHD that occurred in patients 2 and 3 resolved after maintaining a CsA blood concentration of

150–250 ng/mL and with methylprednisolone (1–2 mg/kg). As for patient 2, lichenification was found in the mouth 2 months after transplant. This finding was considered a local chronic GvHD

with no treatment, and the patient remained well. EBV viremia occurred in patients 2 and 3, and both patients’ results became negative after reducing the immunosuppressors. There was no

evidence of EBV disease. At the end of follow-up, all patients remained well with stable engraftment. Post-transplant genetic testing confirmed the mutations in patients were replaced by the

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which are calculated during checkout ADDITIONAL ACCESS OPTIONS: * Log in * Learn about institutional subscriptions * Read our FAQs * Contact customer support REFERENCES * Janka GE, Lehmberg

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hemophagocytic syndromes. _Blood_ 2012; 119: 2754–2763. Article  CAS  Google Scholar  Download references ACKNOWLEDGEMENTS We would like to thank Bone Marrow Transplant practitioners at

Beijing Friendship Hospital for patient care. This work was supported by a National Natural Science Foundation of China Grant No. 81401627, a Medical Development Research Foundation of the

Capital of China Grant 2014-4-2025 and a Beijing Science and Technology Plan Grant Z151100004015172. AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Department of Hematology, Beijing

Friendship Hospital, Capital Medical University, Beijing, China Z Li, Y Wang, J Wang, J Zhang & Z Wang Authors * Z Li View author publications You can also search for this author

inPubMed Google Scholar * Y Wang View author publications You can also search for this author inPubMed Google Scholar * J Wang View author publications You can also search for this author

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inPubMed Google Scholar CORRESPONDING AUTHOR Correspondence to Z Wang. ETHICS DECLARATIONS COMPETING INTERESTS The authors declare no conflict of interest. RIGHTS AND PERMISSIONS Reprints

and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Li, Z., Wang, Y., Wang, J. _et al._ Successful haploidentical stem cell transplantation for three adults with primary hemophagocytic

lymphohistiocytosis. _Bone Marrow Transplant_ 52, 330–333 (2017). https://doi.org/10.1038/bmt.2016.284 Download citation * Published: 24 October 2016 * Issue Date: February 2017 * DOI:

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