Deivasigamani Pradeep, Basu Suprit, Rikhi Rashmi, Arora Kanika, Joshi Vibhu, Jain Richa, Rawat Amit, Singh Surjit, Suri Deepti
Pediatric Allergy Immunology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India.
Pediatric Hematology Oncology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India.
Indian J Pediatr. 2025 Aug 12. doi: 10.1007/s12098-025-05712-6.
The clinical spectrum of X-linked thrombocytopenia (XLT)/ Wiskott-Aldrich syndrome (WAS) is broad, ranging from mild, intermittent thrombocytopenia to the classical severe phenotype characterized by eczema, infections, and thrombocytopenia. Patients with XLT often lack the complete triad but manifest with thrombocytopenia-associated bleeding and are hence misdiagnosed as chronic immune thrombocytopenia (ITP). Moreover, the clinical picture is further complicated by the development of autoimmune cytopenia. Early identification is critical, as definitive treatment with hematopoietic stem cell transplantation (HSCT) can be offered, and unnecessary immunosuppressive therapies, including corticosteroids, can be avoided. In this study, the authors screened a cohort of boys with chronic ITP using flow cytometry-based WASp protein expression analysis, followed by genetic testing. Among 38 patients evaluated, 5 (13.5%) had pathogenic variants in the WAS gene. Clinical features such as X-linked family history, eczema, low mean platelet volume (MPV), or reduced WASp expression in chronic ITP patients with suboptimal response to immunomodulatory drugs should prompt genetic evaluation for WAS.
X连锁血小板减少症（XLT）/威斯科特-奥尔德里奇综合征（WAS）的临床谱广泛，从轻度、间歇性血小板减少到以湿疹、感染和血小板减少为特征的典型严重表型。XLT患者通常缺乏完整的三联征，但表现为与血小板减少相关的出血，因此被误诊为慢性免疫性血小板减少症（ITP）。此外，自身免疫性血细胞减少症的发生使临床情况更加复杂。早期识别至关重要，因为可以提供造血干细胞移植（HSCT）进行确定性治疗，并且可以避免不必要的免疫抑制治疗，包括使用皮质类固醇。在本研究中，作者使用基于流式细胞术的WASp蛋白表达分析对一组患有慢性ITP的男孩进行筛查，随后进行基因检测。在评估的38例患者中，5例（13.5%）在WAS基因中有致病性变异。对于对免疫调节药物反应欠佳的慢性ITP患者，如具有X连锁家族史、湿疹、平均血小板体积（MPV）低或WASp表达降低等临床特征，应促使对WAS进行基因评估。
