Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Wiskott Aldrich syndrome


Other Names for this Disease
  • Aldrich syndrome
  • Eczema thrombocytopenia immunodeficiency syndrome
  • IMD 2
  • Immunodeficiency 2
  • WAS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.


Your Question

My husband's grandmother had three children. Two of her sons with Wiskott Aldrich syndrome (WAS) died at ages 7 and 3. My husband's father did not have it, and he had 3 boys. My husband and I are expecting. Is there a chance our child will have WAS?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How is Wiskott Aldrich syndrome inherited?

Wiskott Aldrich syndrome (WAS) is inherited in an X-linked recessive manner and therefore occurs almost exclusively in males.

X-linked recessive genetic disorders are conditions caused by an abnormal gene on the X chromosome.[1] The X chromosome is one of the two sex chromosomes (the other sex chromosome is the Y chromosome). Females have two X chromosomes in each cell and males have an X chromosome and a Y chromosome in each cell.

WAS is caused by mutations in the WAS gene on the X chromosome, thereby leading to a deficiency of the WASP protein, which is important in the structure and function of most blood cells.

Females have two X chromosomes, but one of the X chromosomes in each cell is "turned off" and all of the genes on that chromosome are inactivated. Females who have a disease gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms of the disorder because it is usually the X chromosome with the abnormal gene that is "turned off" and females have another X chromosome in each cell with a working copy of the WAS gene. 

A male has only one X chromosome, so if he inherits an X chromosome that contains a disease gene, he will develop the disease. Males with X-linked recessive disorders always pass the disease gene to all of their daughters, who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring. 

Female carriers of an X-linked recessive disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease, and a 25% chance to have an unaffected son.[1] This also means that each daughter has a 50% chance of being a carrier, and each son has a 50% chance of having the disease.
Last updated: 6/23/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013

References