Wiskott-Aldrich syndrome is a rare genetic and immunodeficiency disorder.
It prevents the bodysimmune systemfrom properly protecting against infections and reduces the ability to form blood clots.
It affects roughly one to 10 out of every 1 million newborn males.
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Wiskott-Aldrich syndrome is named after the physicians who first discovered it.
In 1934, German pediatrician Dr. Alfred Wiskott identified three brothers with the signature symptoms.
Almost two decades later, American pediatrician Dr. R.A. Aldrich confirmed that the condition is an inherited genetic abnormality.
Researchers officially discovered the mutated gene and its location in 1994.
Specifically for Wiskott-Aldrich syndrome, the cause is amutationin whats known as the WAS gene.
WAS Gene
The WAS gene provides instructions for making a protein found in blood cells.
This leads to the immune system issues related to Wiskott-Aldrich syndrome.
This means the mutated gene is located on the X chromosome (a sex chromosome).
Alternatively, people with a female chromosomal pattern (XX) have two X chromosomes.
If there is a mutation present, they have a healthy X chromosome to fall back on.
It’s pretty rare for females with the gene mutation to develop the symptoms and complications of Wiskott-Aldrich syndrome.
In these rare cases, the symptoms are highly variable.
Females are the “carriers” of the mutation and can pass the defective gene on to their children.
So far, researchers have discovered more than 300 mutations in the WAS gene.
So far, experts say this is the most effective treatment for curing Wiskott-Aldrich syndrome.
On the other hand, inactivated vaccinessuch aspneumococcal vaccinescan usually be given safely to Wiskott-Aldrich patients.
Routine vaccines that people with Wiskott-Adrich are recommended to receive include the pneumococcal vaccine and meningococcal vaccine.
But keep in mind they may not provide the full protection people with normal immune functions receive.
Without any treatment, a patient’s life expectancy can be cut short.
Coping
Dealing with a Wiskott-Aldrich syndrome diagnosis can be difficult, devastating, and frustrating for families.
Its helpful to know you dont have to navigate this journey alone.
Summary
Wiskott-Aldrich syndrome is a rare genetic condition.
Babies with the syndrome have abnormal bleeding episodes, more frequent infections, and eczema.
A bone marrow transplant is an effective treatment.
Stay informed and actively involved with your childs healthcare team.
Early diagnosis and treatment lead to better outcomes.
Experts have made huge leaps in identifying bone marrow transplants as an effective, lifesaving treatment.
Frequently Asked Questions
What is the survival rate of children with Wiskott-Aldrich syndrome?
Wiskott-Aldrich syndrome outcomes and survival rates have made great strides over the past few decades.
Why do males develop Wiskott-Aldrich syndrome?
Simply speaking, males develop Wiskott-Aldrich syndrome because of where the gene mutation is locatedon the X chromosome.
Can tests detect Wiskott-Aldrich syndrome before birth?
Yes, prenatal testing can detect the WAS gene mutation that causes Wiskott-Aldrich syndrome.
Blancas-Galicia L, Quiroz-Escamilla C, Yamazaki-Nakashimada MA.Wiskott-Aldrich syndrome: an updated review.Rev Alerg Mex.
Boston Children’s Hospital.Wiskott-Aldrich syndrome.
National Institute of Allergy and Infectious Diseases.Wiskott-Aldrich syndrome.
Immune Deficiency Foundation.Wiskott-Aldrich syndrome (WAS).
NIH National Center for Advancing Translational Sciences.Wiskott Aldrich syndrome.
Liu N, et al.Mutation analysis of WASP gene and prenatal diagnosis of Wiskott-Aldrich syndrome.Zhonghua Er Ke Za Zhi.
