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[Clinical features of Wiskott-Aldrich syndrome: an analysis of 13 cases]
Chao Liu1, Xiao-Yan Chen, Wen-Qi Wu
1Department of Pediatric Blood Diseases, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China. xfzhu@ihcams.ac.cn.
Insights
Wiskott-Aldrich syndrome (WAS) typically affects young boys, presenting with low platelet counts and reduced platelet volume. Missense mutations are the most common genetic cause of WAS.
Area of Science:
- Pediatric Immunology
- Hematology
- Genetics
Background:
- Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency disorder.
- Clinical manifestations can vary, including eczema, thrombocytopenia, and immunodeficiency.
Purpose of the Study:
- To investigate the clinical characteristics of Wiskott-Aldrich syndrome in a pediatric cohort.
- To identify common genetic mutations associated with WAS.
Main Methods:
- Retrospective analysis of clinical data from 13 children diagnosed with WAS.
- Evaluation of clinical features, laboratory findings, and genetic mutations.
Main Results:
- The study included 13 boys with a median age of onset at 3 months.
- Ten patients had X-linked thrombocytopenia (XLT) variant; three had typical WAS.
- Common findings included thrombocytopenia (mean platelet count 20.5×10^9/L) with reduced platelet volume (mean 8.1 fl).
- Genetic analysis revealed missense mutations as the predominant mutation type (65%).
Conclusions:
- Wiskott-Aldrich syndrome predominantly affects young males.
- Key clinical features include early-onset thrombocytopenia with microthrombocytopenia.
- Genetic mutations, particularly missense types, are crucial for diagnosis.
Objective:
To study the clinical features of Wiskott-Aldrich syndrome (WAS) in children.
Methods:
A retrospective analysis was performed for the clinical data of 13 children with WAS.
Results:
All 13 children were boys, with a median age of onset of 3 months (range 1-48 months) and a median age of 24 months (range 1-60 months) at the time of diagnosis. Of the 13 children, only 3 had typical WAS and the remaining 10 children had X-linked thrombocytopenia (XLT). The mean WAS score was 2 (range 1-3), the mean platelet count was 20.5×109/L [range (13-46)×109/L], and the mean platelet volume was 8.1 fl (range 6.7-12.1 fl). Lymphocyte subsets and immunoglobulins were measured for 4 children, among whom 1 (25%) had a reduction in both the percentage of CD3+T cells per lymphocyte and lymphocyte per nuclear cells, 1(25%) had a reduction in CD3-CD56+ NK cells. Among these 4 children, 1 (25%) had an increase in IgG, 2 (50%) had a reduction in IgM, 1 (25%) had a reduction in IgA, and 4 (100%) had an increase in IgE. A total of 14 gene mutations belonging to 13 types were found in 13 children, among which there were 9 missense mutations (65%), 2 splicing mutations (14%), 2 nonsense mutation (14%), and 1 frameshift mutation (7%). The median follow-up time was 39 months (range 3-62 months), and all 13 children survived.
Conclusions:
Children with WAS often have a young age of onset, and most of them are boys. Major clinical features include thrombocytopenia with a reduction in platelet volume. Missense mutation is the main type of gene mutation.
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