Clinical spectrum of Wiskott-Aldrich syndrome carriers: Self-reported survey of 193 carriers.

Clinical spectrum of Wiskott-Aldrich syndrome carriers: Self-reported survey of 193 carriers.
Chandrakasan S, Westbrook A, Griffith LM, Hagin D, Iyengar S, Mangurian C, Scalchunes C, Sullivan KE, Zablocki A, Bakshi N, Sinha C, Burroughs LM, Chan AY, Dvorak CC, Haddad E, Heimall J, Kohn DB, Leiding JW, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Marsh RA, Torgerson T, Cowan MJ, Ochs HD, Parikh S. Clin Immunol. 2026 Feb;283:110658. doi: 10.1016/j.clim.2025.110658. Epub 2025 Dec 17. PMID: 41419161 Free PMC article.

Publication Abstract

Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder with microthrombocytopenia, eczema, immunodeficiency, autoimmunity and malignancies resulting from WAS pathogenic variants. Prevalence of disease in heterozygous female carriers has not been described previously. An online Qualtrics survey was designed in collaboration with the Wiskott-Aldrich Foundation, the Immune Deficiency Foundation, the Primary Immune Deficiency Treatment Consortium and Emory University to describe the incidence of thrombocytopenia, eczema, infections, autoimmune disorders, malignancies, and psychosocial factors. 193 carriers with a median age of 39 years participated in this survey. Respondents were predominantly White and were mothers of WAS patients. We observed a high prevalence of thrombocytopenia (13 %), eczema (22 %), infections (33 %) and autoimmunity (24 %) in this self-reported survey. No hematological malignancies were reported. Guilt (91 %), anxiety (41 %) and depression (44 %) were very prevalent. Comprehensive clinical and immunologic studies of WAS carriers should be prioritized to define appropriate health screening, preventive approaches, and counselling for carriers. SUMMARY: This self-reported survey describes the disease burden in 193 carriers of X-linked Wiskott-Aldrich syndrome. It highlights the increased incidence of thrombocytopenia, eczema, infections and autoimmunity in WAS carriers and the need for more comprehensive studies of WAS carriers.