Frontiers in pediatrics · 2026
Wiskott-Aldrich syndrome and X-linked thrombocytopenia: a review of the clinical and immunological spectrum with a case presentation highlighting glomerulonephritis.
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Stroescu Ramona, Chirita-Emandi Adela, Steflea Ruxandra Maria, Mihailov Delia, Doros Gabriela, Chisavu Flavia, Munteanu Catalin, Gafencu Mihai
Аннотация
BACKGROUND: Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency caused by mutations in the WAS gene, characterized by thrombocytopenia, eczema, recurrent infections, and immune dysregulation. Its milder form, X-linked thrombocytopenia (XLT), exhibits variable autoimmune manifestations. Renal involvement, particularly glomerulonephritis, is uncommon but clinically significant.
CASE PRESENTATION: We report a 10-year-old boy presenting with severe thrombocytopenia, hyporegenerative anemia, nephritic-range proteinuria, and hematuria, alongside multiple autoantibodies including antiglomerular basement membrane, antineutrophil cytoplasmic antibodies, and antinuclear antibodies. His complement levels were reduced and immunoglobulins elevated. Kidney biopsy revealed IgA nephropathy (Oxford M0 E0 S0 T1 C0) with 30% interstitial fibrosis. Bone marrow studies demonstrated near-complete absence of megakaryocytes. The patient's family history was notable for thrombocytopenia in the mother and younger brother. Genetic testing confirmed a homozygous c.599+5G>A WAS variant, consistent with XLT.
LITERATURE REVIEW: To contextualize these findings, data from the literature, including the IPINet registry (117 patients with WAS/XLT), were reviewed. WAS patients frequently exhibited invasive infections and diverse autoimmune manifestations, including hemolytic anemia, vasculitis, inflammatory bowel disease, arthritis, nephropathy, and celiac disease.
DISCUSSION: Dysregulated T- and B-cell function in WAS/XLT promotes autoantibody formation, contributing to renal injury. IgA nephropathy is the predominant glomerular pathology, mediated by circulating immune complexes containing aberrantly glycosylated IgA1.
CONCLUSION: This case illustrates the broad spectrum of autoimmunity in WAS/XLT, highlighting the potential for renal involvement. It emphasizes the importance of early recognition, genetic confirmation, and multidisciplinary management. Registry data remain essential for guiding prognosis, monitoring complications, and informing therapeutic strategies, including hematopoietic stem cell transplantation.
CASE PRESENTATION: We report a 10-year-old boy presenting with severe thrombocytopenia, hyporegenerative anemia, nephritic-range proteinuria, and hematuria, alongside multiple autoantibodies including antiglomerular basement membrane, antineutrophil cytoplasmic antibodies, and antinuclear antibodies. His complement levels were reduced and immunoglobulins elevated. Kidney biopsy revealed IgA nephropathy (Oxford M0 E0 S0 T1 C0) with 30% interstitial fibrosis. Bone marrow studies demonstrated near-complete absence of megakaryocytes. The patient's family history was notable for thrombocytopenia in the mother and younger brother. Genetic testing confirmed a homozygous c.599+5G>A WAS variant, consistent with XLT.
LITERATURE REVIEW: To contextualize these findings, data from the literature, including the IPINet registry (117 patients with WAS/XLT), were reviewed. WAS patients frequently exhibited invasive infections and diverse autoimmune manifestations, including hemolytic anemia, vasculitis, inflammatory bowel disease, arthritis, nephropathy, and celiac disease.
DISCUSSION: Dysregulated T- and B-cell function in WAS/XLT promotes autoantibody formation, contributing to renal injury. IgA nephropathy is the predominant glomerular pathology, mediated by circulating immune complexes containing aberrantly glycosylated IgA1.
CONCLUSION: This case illustrates the broad spectrum of autoimmunity in WAS/XLT, highlighting the potential for renal involvement. It emphasizes the importance of early recognition, genetic confirmation, and multidisciplinary management. Registry data remain essential for guiding prognosis, monitoring complications, and informing therapeutic strategies, including hematopoietic stem cell transplantation.