What question did this study set out to answer?

To report a case of atypical Wiskott-Aldrich syndrome (WAS) presenting with normal platelet volume and stage-5 chronic kidney disease, previously misdiagnosed as immune thrombocytopenia (ITP).

June 20, 2026Journal of Translational AutoimmunityOpen Access

Atypical Wiskott-Aldrich syndrome presenting with normal platelet volume and end-stage renal disease: from misdiagnosis as ITP to combined transplantation

View Full Paper

Ask AI

Bookmark

Authors

GZGuan ZhaojieShanxi Academy of Medical Sciences HCHua ChenShanxi Academy of Medical Sciences WZWU ZhenghuaShanxi Academy of Medical Sciences

Discussion

Member takes

Implication

Atypical Wiskott-Aldrich syndrome presents with normal platelet volume in a patient misdiagnosed with ITP, highlighting the need for accurate diagnosis.

Key Points

To report a case of atypical Wiskott-Aldrich syndrome (WAS) presenting with normal platelet volume and stage-5 chronic kidney disease, previously misdiagnosed as immune thrombocytopenia (ITP).
Patient diagnosed with a novel WAS mutation (c.252C>A, p.F84L)
Assessed for low lymphocyte counts and reduced WAS protein levels
Underwent combined hematopoietic stem cell and kidney transplantation.
Normal mean platelet volume was maintained despite persistent thrombocytopenia.
Confirmed WAS was identified after years of misdiagnosis as ITP.
Combined transplantation was implemented to address both kidney failure and immunity.

Cite This Study

Zhaojie et al. (2026) studied this question.

synapsesocial.com/papers/6a363040db0793dc1a5376db https://doi.org/10.1016/j.jtauto.2026.100383

View Full Paper

Ask AI

Bookmark

Implication

Atypical Wiskott-Aldrich syndrome presents with normal platelet volume in a patient misdiagnosed with ITP, highlighting the need for accurate diagnosis.

Atypical Wiskott-Aldrich syndrome presenting with normal platelet volume and end-stage renal disease: from misdiagnosis as ITP to combined transplantation

Discussion

Member takes

Implication

Key Points

Cite This Study

Atypical Wiskott-Aldrich syndrome presenting with normal platelet volume and end-stage renal disease: from misdiagnosis as ITP to combined transplantation

Discussion

Member takes

Implication

Key Points

Cite This Study

Also Consider

Also Consider