https://orcid.org/0000-0003-4278-1186
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Abstract
Wiskott-Aldrich syndrome (WAS)/X-linked thrombocytopenia (XLT) is a rare X-linked disease characterized by thrombocytopenia, eczema, and recurrent infection. In addition, WAS/XLT increases incidence of autoimmune diseases and malignancies. We reported 7 male patients, 2 with WAS and 5 with XLT, from 6 different families. Two novel mutations, p.Gly387GlufsTer58 and p.Ala134Asp, were identified in patients with WAS. Both patients had severe clinical phenotypes compatible with classic WAS and developed lethal outcomes with intracranial hemorrhage. Other than that, one patient with XLT developed pineoblastoma.
Abbreviations
| AIHA | = | Autoimmune hemolytic anemia |
| EVH1/WH1 | = | Ena-Vasp homology domain/WASp homology domain 1 |
| HSCT | = | Hematopoietic stem cell transplantation |
| ICH | = | Intracerebral hemorrhage |
| Ig | = | Immunoglobulin |
| ITP | = | Immune thrombocytopenia |
| IVIG | = | Intravenous immunoglobulin |
| MPV | = | Mean platelet volume |
| MRI | = | Magnetic resonance imaging |
| NAIT | = | Neonatal alloimmune thrombocytopenia |
| PBS | = | Peripheral blood smear |
| PHA | = | Phytohemagglutinin |
| PPPP | = | Proline-rich region |
| WAS | = | Wiskott-Aldrich syndrome |
| WASp | = | Wiskott-Aldrich syndrome protein |
| XLT | = | X-linked thrombocytopenia |
Acknowledgements
We would like to acknowledge physicians and paramedical personnel involved in the care of the patients and the Faculty of Medicine Ramathibodi Hospital for giving Research Career Development Awards to DW and NS. This study was supported by the Thai Society of Hematology. We thank Ms. Surat Turcot for editing the draft of this manuscript.
Disclosure statement
No potential conflict of interest was reported by the author(s).
Authors contribution
Natsumon Udomkittivorakul and Nongnuch Sirachainan reviewed patients’ data and wrote the manuscript. Pongpak Pongphitcha, Duangrurdee Wattanasirichaigoon, Wiparat Manuyakorn, Padcha Tunlayadechanont, and Nongnuch Sirachainan involved in patients’ care. Arthaporn Khongkraparn performed genetic analysis. All authors approved the submitted version of the manuscript.