Carriers of Wiskott-Aldrich Syndrome

First-ever International Study on the Clinical Spectrum of WAS Carriers

We are proud to share the publication of the first-ever study examining the clinical spectrum of Wiskott-Aldrich Syndrome (WAS) carriers: https://doi.org/10.1016/j.clim.2025.110658.

This study was spearheaded by the Wiskott-Aldrich Foundation and conducted in collaboration with the Primary Immune Deficiency Treatment Consortium (PIDTC) and the Immune Deficiency Foundation (IDF). It came about because carriers have been raising important questions about their own health—and we listened.

We are deeply grateful to all carriers who participated in the survey, and especially to the group of carriers who helped develop and beta-test it. Their input shaped the study and will serve as a foundation for future research.

Thanks to this study, we are beginning to have answers to important questions about the health of WAS carriers. While this represents an important first step, more research is needed to fully understand the range of symptoms, health risks for carriers and whether carriers can be donors.  We hope to start more studies in 2026.

A special thank you to the PIDTC for their collaboration and support, which made this study possible.

Title: Clinical spectrum of Wiskott‑Aldrich syndrome carriers: Self‑reported survey 

What the study is about

The article reports findings from an online self‑reported survey of carriers of Wiskott‑Aldrich syndrome (WAS).

Study design

• Participants: 193 self‑identified WAS carriers completed an online survey.

• The survey was developed in collaboration with multiple organizations including the Wiskott‑Aldrich Foundation and Emory University. 

• Question topics included symptoms (blood, immune, skin), autoimmune conditions, infections, and psychosocial health.
  
  

Key findings

Carriers reported the following health burdens:

• Thrombocytopenia (low platelets) — ~13% reported this symptom.

• Eczema or skin issues — were seen in ~22% of respondents with eczema being the most commonly reported.

• Infections — recurrent or persistent infections were reported by 33% of respondents.  Most common sites of infections experienced in the past 10 years were sinuses, ears, skin, and lungs (pneumonia).

• Autoimmunity — ~24% had at least one autoimmune condition.  The most common disorders were autoimmune thyroiditis (Hashimoto), rheumatoid arthritis, immune thrombocytopenia (ITP), and psoriasis.

• No hematologic malignancies were reported among participants.  The risk of cancer did not differ from that observed in the general population
  
  

Psychosocial aspects

• A notably high proportion of carriers reported mental health challenges, including feelings of guilt (91%), anxiety (41%), and depression (44%).
  
  

Conclusions

• The survey suggests that female WAS carriers can experience significant clinical symptoms, such as bleeding tendencies, eczema, infections, and autoimmune disease — more than previously recognized, and impacts the quality of life. It also highlights important psychosocial burden in carriers, impacting quality of life.

• Reassuringly, major illness or organ dysfunction does not appear to be significantly increased. 

• Common practice of labeling WAS carriers as healthy individuals should be reevaluated, and prompt attention be given to symptoms exhibited by carriers, with immunological and hematological evaluation and management.

• The authors recommend more comprehensive clinical and immunologic studies of carriers to better understand their health needs and guide screening, prevention, and counseling.

• Carriers predicted more definitively to have an asymptomatic or less severe course could be considered as potential stem cell donors for their affected family members.

We have made this publication such that it is available to read in its entirety at no cost, allowing families, carriers, and clinicians worldwide to access and learn from the study.

Learn more and download the study: https://doi.org/10.1016/j.clim.2025.110658