{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Chandrakasan S"],"funding":["National Center for Advancing Translational Sciences","Rare Diseases Clinical Research Network","NIAID NIH HHS","National Heart, Lung, and Blood Institute","NHLBI NIH HHS","Health Resources and Services Administration","National Institutes of Health","Office of Naval Research","National Institute of Allergy and Infectious Diseases","U.S. Department of Health and Human Services","National Cancer Institute","NCI NIH HHS","NINDS NIH HHS"],"pagination":["110658"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12856571"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["283"],"pubmed_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."],"journal":["Clinical immunology (Orlando, Fla.)"],"pubmed_title":["Clinical spectrum of Wiskott-Aldrich syndrome carriers: Self-reported survey of 193 carriers."],"pmcid":["PMC12856571"],"funding_grant_id":["U24CA76518","R13-AI094943","1R24AI184316","U54 AI082973","U54 NS064808","U01HL069294","U01 HL069294","U54-NS064808","N00014-14-1-0028","N00014-13-1-0039","R13 AI094943","R24 AI184316","HHSH250201200016C","U24 CA076518"],"pubmed_authors":["Pulsipher MA","Griffith LM","Sinha C","Pai SY","Parikh S","Burroughs LM","Haddad E","Zablocki A","Puck JM","Bakshi N","Hagin D","Scalchunes C","Ochs HD","Kohn DB","Westbrook A","Marsh RA","Chan AY","Heimall J","Chandrakasan S","Iyengar S","Notarangelo LD","Torgerson T","Sullivan KE","Cowan MJ","Mangurian C","Dvorak CC","Leiding JW"],"additional_accession":[]},"is_claimable":false,"name":"Clinical spectrum of Wiskott-Aldrich syndrome carriers: Self-reported survey of 193 carriers.","description":"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.","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Feb","modification":"2026-06-11T05:33:58.457Z","creation":"2026-06-11T03:08:14.566Z"},"accession":"S-EPMC12856571","cross_references":{"pubmed":["41419161"],"doi":["10.1016/j.clim.2025.110658"]}}