A new SH2D1A mutation in a female adult XLP disease with hemophagocytic lymphohistiocytosis and NK-cell leukemia

  • Jin-Hua Liang
  • Hua-Yuan Zhu
  • Dan-Min Xu
  • Li Wang
  • Yan Wang
  • Chun Qiao
  • Yu-Jie Wu
  • Rong Wang
  • Jian-Yong Li
  • Wei XuEmail author
Letter to the Editor



We thank Professor Robert Gale, the editor-in-chief of the journal of Leukemia, who helped us revising and editing our manuscript. All authors read and approved the final typescript.

Funding information

Supported by National Natural Science Foundation of China (81470328, 81600130, 81770166, 81720108002), Jiangsu Province Medical Elite Programme (ZDRCA2016022), Project of National Key Clinical Specialty, National Science & Technology Pillar Program (2014BAI09B12), Jiangsu Provincial Special Program of Medical Science (BL2014086 and BE2017751) and National Science and Technology Major Project (2017ZX09304032).

Compliance with ethical standards

Ethics approval

The ethics approval of this study was obtained from the Independent Ethics Committee of Nanjing Medical University. The subjects are given written informed consent completing the requirements of the Declaration of Helsinki.

Informed consent

Informed consent was obtained from all individual participants included in the study.

Competing interests

The authors declare that they have no competing interests.

Supplementary material

277_2019_3810_Fig2_ESM.png (6.2 mb)
Supplement Fig. 1

Immune phenotype analysis of bone marrow aspirate. (A) Mass of abnormal NK-cells with strong staining for CD56, moderate staining for CD8, CD2MED, CD7, CD94, CD161 and HLADR but not staining for CD3, CD4, CD16, CD57, CD26, CD28, CD45RA, CD45RO or CD5. (B) Killer cell immunoglobulin-like receptor (KIR) staining is negative for CD158a, CD158b, CD158e and CD158i. (PNG 6346 kb)

277_2019_3810_MOESM1_ESM.tif (2.9 mb)
High resolution image (TIF 2930 kb)
277_2019_3810_Fig3_ESM.png (129 kb)
Supplement Fig. 2

WB analysis of SAP protein of this patient. GAPDH was used as the control. (PNG 128 kb)

277_2019_3810_MOESM2_ESM.tif (42 kb)
High resolution image (TIF 42 kb)
277_2019_3810_MOESM3_ESM.docx (28 kb)
Supplemental Table 1 (DOCX 27 kb)


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Hematology, the First Affiliated Hospital of Nanjing Medical UniversityJiangsu Province HospitalNanjingChina
  2. 2.Key Laboratory of Hematology of Nanjing Medical UniversityNanjingChina
  3. 3.Collaborative Innovation Center for Cancer Personalized MedicineNanjingChina

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