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Related Experiment Video

Updated: Jul 9, 2026

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

Published on: October 14, 2021

Wiskott-Aldrich syndrome.

Luigi D Notarangelo¹, Carol H Miao, Hans D Ochs

¹Division of Immunology, Children's Hospital, Harvard Medical School, Boston, MA, USA.

Current Opinion in Hematology

|November 29, 2007

Summary

Wiskott-Aldrich syndrome (WAS) arises from mutations in the WAS protein gene. Advances in understanding WAS protein function and gene therapy offer hope for curing this lethal genetic disorder.

Area of Science:

Immunology
Genetics
Molecular Biology

Background:

Wiskott-Aldrich syndrome (WAS) is a rare genetic disorder caused by mutations in the Wiskott-Aldrich syndrome protein (WASp) gene.
WASp is a cytoplasmic protein crucial for immune cell function, motility, and protection against autoimmune diseases.

Purpose of the Study:

To review recent advancements in understanding the molecular basis of Wiskott-Aldrich syndrome.
To explore the implications of these findings for developing effective cures for WAS.

Main Methods:

Analysis of genotype-phenotype correlations in WAS patients.
Investigation of Wiskott-Aldrich syndrome protein functional domains.
Long-term follow-up of hematopoietic stem cell transplantation (HSCT) outcomes.

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Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation

Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation

Published on: August 23, 2024

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Last Updated: Jul 9, 2026

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

Published on: October 14, 2021

Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation

Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation

Published on: August 23, 2024

Studies utilizing Wiskott-Aldrich syndrome protein-deficient cell lines and knockout mouse models.

Main Results:

Identification of a spectrum of clinical phenotypes strongly correlated with specific gene mutations.
Elucidation of Wiskott-Aldrich syndrome protein's role in immune signaling and cell dynamics.
Refinement of hematopoietic stem cell transplantation protocols based on patient outcomes.
Development of preclinical models supporting gene therapy approaches.

Conclusions:

WAS gene mutations lead to distinct clinical presentations, including classic WAS, X-linked thrombocytopenia, and intermittent forms.
Wiskott-Aldrich syndrome protein is vital for both innate and adaptive immunity, cell migration, and immune homeostasis.
Hematopoietic stem cell transplantation success is influenced by patient age, donor factors, and conditioning.
Gene therapy holds significant promise for curing Wiskott-Aldrich syndrome due to WASp's exclusive expression in hematopoietic stem cells.