Clinical Report: Insights into Wiskott–Aldrich Syndrome and Glomerulonephritis

Overview

This report presents a case of a 10-year-old boy with Wiskott–Aldrich syndrome (WAS) exhibiting severe thrombocytopenia and IgA nephropathy. It emphasizes the importance of recognizing renal involvement in WAS and highlights the need for genetic confirmation and multidisciplinary management.

Background

Wiskott–Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by a triad of symptoms: thrombocytopenia, eczema, and recurrent infections. Renal involvement, particularly glomerulonephritis, is uncommon but can significantly impact patient outcomes. Understanding the autoimmune manifestations associated with WAS is crucial for timely diagnosis and management.

Data Highlights

No numerical data provided in the article.

Key Findings

• The patient presented with severe thrombocytopenia, hyporegenerative anemia, and nephritic-range proteinuria.
• Genetic testing confirmed a homozygous c.599+5G>A WAS variant, consistent with X-linked thrombocytopenia (XLT).
• Kidney biopsy revealed IgA nephropathy with 30% interstitial fibrosis.
• Autoantibodies including antiglomerular basement membrane and antinuclear antibodies were detected in the patient.
• Registry data indicated that WAS patients often experience diverse autoimmune manifestations, including renal involvement.

Clinical Implications

Healthcare professionals should be vigilant in recognizing renal complications in patients with WAS/XLT. Early genetic confirmation and a multidisciplinary approach are essential for managing these patients effectively.

Conclusion

This case underscores the broad spectrum of autoimmune manifestations in WAS/XLT, particularly the potential for renal involvement, and highlights the importance of early diagnosis and comprehensive management.

Related Resources & Content

1. Frontiers in Immunology, 2026 -- Neurological manifestations in Wiskott–Aldrich syndrome: a systematic review
2. The ASCO Post, 2015 -- Microangiopathic Hemolytic Anemia and Thrombocytopenia
3. Frontiers in Cardiovascular Medicine, 2026 -- A triad of hypertension, heart failure, and glomerular injury in subacute Kawasaki disease: a case report and literature review
4. Frontiers in Pediatrics, 2026 -- Case Report: Early diagnosis of X-linked Alport syndrome in a pediatric patient and literature review
5. WAS-Related Disorders - GeneReviews®, NCBI Bookshelf
6. Updated EBMT/ESID inborn errors working party guidelines for haematopoietic stem cell transplantation for inborn errors of immunity and metabolism | Bone Marrow Transplantation
7. Autoimmunity in Wiskott–Aldrich Syndrome: Updated Perspectives - PMC
8. WAS-Related Disorders - GeneReviews® - NCBI Bookshelf
9. Updated EBMT/ESID inborn errors working party guidelines for haematopoietic stem cell transplantation for inborn errors of immunity and metabolism | Bone Marrow Transplantation
10. Autoimmunity in Wiskott–Aldrich Syndrome: Updated Perspectives - PMC