ICD10 code of Wiskott-Aldrich syndrome and ICD9 code

Wiskott-Aldrich syndrome is classified under the ICD-10-CM code D82.0, which specifically identifies the condition as "Wiskott-Aldrich syndrome." In the legacy ICD-9-CM coding system, this condition was categorized under the code 279.12.

What is Wiskott-Aldrich syndrome?

Wiskott-Aldrich syndrome is a rare, X-linked primary immunodeficiency disorder characterized by the clinical triad of microthrombocytopenia (abnormally small and low number of platelets), eczema, and recurrent infections. Because Wiskott-Aldrich syndrome is caused by mutations in the WAS gene, it primarily affects males. The disease leads to significant immune system dysfunction, leaving affected individuals highly susceptible to bacterial, viral, and fungal infections, as well as an increased risk of autoimmune disorders and malignancies such as lymphoma.

How is Wiskott-Aldrich syndrome diagnosed?

Diagnosis of Wiskott-Aldrich syndrome typically involves a combination of clinical evaluation and laboratory testing. Physicians look for the characteristic triad mentioned above, alongside specific immunological markers. Key diagnostic steps include:

• Complete Blood Count (CBC): To identify low platelet counts and characteristically small platelet size (mean platelet volume).


• Immunological Assays: Measuring levels of immunoglobulins (often low IgM, elevated IgA and IgE) and assessing T-cell function.


• Genetic Testing: Sequencing the WAS gene is the gold standard to confirm a diagnosis of Wiskott-Aldrich syndrome.


• Protein Analysis: Flow cytometry can be used to assess the presence of the WAS protein (WASp) in peripheral blood cells.

Is Wiskott-Aldrich syndrome hereditary?

Yes, Wiskott-Aldrich syndrome is an X-linked recessive disorder, meaning the gene mutation responsible for the condition is located on the X chromosome. Because males have only one X chromosome, they are much more likely to manifest the full phenotype of Wiskott-Aldrich syndrome. Females who carry one mutated copy of the WAS gene are typically asymptomatic carriers, though they can pass the mutation to their children. Genetic counseling is highly recommended for families affected by Wiskott-Aldrich syndrome to understand the risks of transmission and available reproductive options.

What is the current outlook for patients?

While Wiskott-Aldrich syndrome is a serious condition, advancements in clinical care have significantly improved outcomes. Hematopoietic stem cell transplantation (HSCT) remains the only curative treatment for Wiskott-Aldrich syndrome, and it is most successful when performed early in life. Ongoing research into gene therapy offers hope for patients who do not have a suitable stem cell donor. At DiseaseMaps.org, we recognize the importance of community support; currently, 7 people with Wiskott-Aldrich syndrome have joined our platform to share their experiences and navigate this complex journey together.

Next steps

• Consult with a board-certified clinical immunologist or hematologist to discuss the latest management protocols.


• Request a referral to a genetic counselor to discuss family planning and carrier testing.


• Connect with the DiseaseMaps.org community to share resources and find emotional support from others managing this condition.


• Monitor clinical trial registries such as ClinicalTrials.gov for emerging therapies or gene-editing research.

Medical disclaimer: This content is for informational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Wiskott-Aldrich syndrome.


• Orphanet: Wiskott-Aldrich syndrome (ORPHA:908).


• Online Mendelian Inheritance in Man (OMIM): Wiskott-Aldrich Syndrome (Entry #301000).


• Immune Deficiency Foundation (IDF): Information on Wiskott-Aldrich Syndrome.