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Wiskott-Aldrich Syndrome Across Three Siblings: Variable Clinical Expression and Current Understanding.

Dilek Keskin¹, Ozlem Candan¹

¹Department of Hematology, SBÜ Istanbul Kanuni Sultan Suleyman Training and Research Hospital, Atakent Mahallesi, Turgut Ozal Caddesi No:1, Kucukcekmece, Istanbul, 34303 Turkey.

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Summary

Wiskott-Aldrich Syndrome (WAS) presents diverse symptoms, even within families. This review highlights varied clinical outcomes and the need for personalized management strategies for this rare X-linked immunodeficiency.

Keywords:

Autoimmunity Microthrombocytopenia Phenotypic variability Thrombotic complications Wiskott-Aldrich syndrome X-linked immunodeficiency

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Area of Science:

Immunology
Genetics
Hematology

Background:

Wiskott-Aldrich Syndrome (WAS) is a rare X-linked immunodeficiency.
Classical WAS triad includes microthrombocytopenia, eczema, and infections.
Broader spectrum involves immune dysregulation, autoimmunity, and vascular complications.

Purpose of the Study:

To explore the pathophysiological mechanisms of WAS.
To highlight the phenotypic heterogeneity of WAS through case studies.
To review current and novel treatment strategies for WAS.

Main Methods:

Case review of three siblings with WAS.
Genetic confirmation of WAS gene mutation in two siblings.
Exploration of pathophysiological mechanisms including platelet dysfunction, autoimmunity, infection, and vascular complications.

Main Results:

Markedly different clinical phenotypes observed in genetically confirmed siblings.
One sibling presented with severe thrombocytopenia and eczema; another with thrombotic events (retinal artery occlusion).
Third sibling's death from sepsis suggests undiagnosed WAS, underscoring diagnostic challenges.

Conclusions:

WAS exhibits significant phenotypic heterogeneity, challenging genotype-based predictions.
Individualized management is crucial for patients with WAS.
Understanding immunologic, infectious, and vascular aspects aids earlier diagnosis and clinical decision-making.