Related Experiment Video

Updated: Jan 8, 2026

A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome
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A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome

Published on: May 22, 2019

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Random X chromosome inactivation in a female with a variant of Wiskott-Aldrich syndrome

S J Russell1, P D Nisen

  • 1Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas 75235-9063, USA.

British Journal of Haematology
|May 1, 1995
PubMed

Insights

This study reports an atypical Wiskott-Aldrich syndrome case in a 15-month-old girl with eczema and infections. Findings suggest a potential autosomal recessive inheritance pattern for this rare immune disorder.

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency disorder.
  • Typical WAS presents with eczema, thrombocytopenia, and recurrent infections.

Observation:

  • A 15-month-old female exhibited eczema, thrombocytopenia, recurrent infections, and failure to thrive.
  • Laboratory results revealed low serum IgM and IgG subclasses and abnormal lymphocyte proliferation.
  • X chromosome inactivation analysis showed random inactivation.

Findings:

  • The patient's presentation and laboratory findings suggest an atypical form of Wiskott-Aldrich syndrome.
  • The random X chromosome inactivation pattern is unusual for typical X-linked WAS.
  • Autosomal recessive inheritance is proposed as a possible mode of transmission.

Implications:

  • This case expands the known clinical spectrum of Wiskott-Aldrich syndrome.
  • Identifying atypical inheritance patterns is crucial for accurate genetic counseling and diagnosis.
  • Further research is needed to understand the genetic basis of this atypical form of WAS.

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