Wiskott–Aldrich syndrome

Wiskott–Aldrich syndrome is an inherited X-linked disorder caused by pathogenic variants in WAS. It combines thrombocytopenia with small platelets, eczema, immune deficiency, and elevated risks of autoimmunity and malignancy.

WAS gene: The X-chromosomal gene encoding Wiskott–Aldrich syndrome protein. Pathogenic variants in this gene cause the syndrome.
Complete blood count: A blood test measuring cells and related indices, including platelet number and size. It can reveal the syndrome's thrombocytopenia and unusually small platelets.
Eczema: An inflammatory skin condition marked by itch and a disrupted skin barrier. It is a common feature alongside thrombocytopenia and immune deficiency.
X-linked thrombocytopenia: A usually milder disorder caused by variants in WAS that primarily produces low platelet counts. It shares the genetic cause but often lacks the syndrome's severe immune manifestations.
Wiskott–Aldrich syndrome protein: An intracellular protein that regulates actin cytoskeleton remodeling in blood and immune cells. Its impaired activity links WAS variants to platelet and immune-cell defects.
Flow cytometry: A laboratory method that measures characteristics of cells as they pass through a laser beam. WAS protein expression in blood cells can support diagnosis and assess severity.
Autoimmunity: An immune response directed against the body's own cells or tissues. Immune dysregulation in the syndrome can lead to autoimmune complications.
Immune thrombocytopenia: An acquired autoimmune disorder in which antibodies and immune cells destroy platelets. Unlike this inherited syndrome, it is not caused by WAS variants and typically has normal-sized platelets.
Actin cytoskeleton: A dynamic network of actin filaments that gives cells structure and supports movement and signaling. WAS protein helps immune cells reorganize this network during activation and migration.
Hematopoietic stem cell transplantation: A treatment replacing blood-forming stem cells with cells from a donor or the patient. It can provide a lasting cure by establishing blood and immune cells with functional WAS protein.

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