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Diseases

Genetic and Rare Diseases Information Center (GARD)

Wiskott Aldrich syndrome


Other Names for this Disease
  • Aldrich syndrome
  • Eczema thrombocytopenia immunodeficiency syndrome
  • Eczema-thrombocytopenia-immunodeficiency syndrome
  • IMD 2
  • Immunodeficiency 2
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. A condition is X-linked if the responsible gene is located on the X chromosome. 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.

Although females have two X chromosomes, 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 mutation in a gene on one of their X chromosomes are called carriers of the related condition. Carrier females usually do not have symptoms of the condition because usually the X chromosome with the mutated gene is turned off. Therefore, they have another X chromosome with a working copy of the gene. Sometimes, the X chromosome with the working copy of the gene is turned off, which may cause symptoms of the condition. However, females with symptoms are usually much more mildly affected than males. A male has only one X chromosome, so if he inherits a mutation on the X chromosome, he will have signs and symptoms (be affected).

Males with an X-linked recessive condition always pass the mutated 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 to male offspring.[1]

Female carriers of an X-linked recessive condition 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 an affected son, and a 25% chance to have an unaffected son.[1] This also means that each daughter of a carrier mother has a 50% chance of being a carrier, and each son has a 50% chance of having the condition.
Last updated: 4/10/2015

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: 6/5/2014

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