Evidence map›Paper›PMID 41419161›Full record

ArticleClinical immunology (Orlando, Fla.)2026

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

Shanmuganathan Chandrakasan, Adrianna Westbrook, Linda M Griffith, David Hagin, Sumathi Iyengar, Christina Mangurian, Chris Scalchunes, Kathleen E Sullivan, Akiva Zablocki, Nitya Bakshi and 17 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical immunology (Orlando, Fla.), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

27 authors.

Shanmuganathan ChandrakasanAflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta and Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Adrianna WestbrookPediatric Biostatistics Core, Department of Pediatrics, Emory University, Atlanta, GA, USA.
Linda M GriffithDivision of Allergy, Immunology, and Transplantation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
David HaginAllergy and Clinical Immunology, Tel-Aviv Sourasky Medical Center and Tel-Aviv University, Tel-Aviv, Israel.
Sumathi IyengarWiskott-Aldrich Foundation, Smyrna, GA, USA.
Christina MangurianDepartment of Psychiatry and Behavioral Sciences, University of California San Francisco, San Francisco, CA, USA.
Chris ScalchunesImmune Deficiency Foundation, Towson, MD, USA.
Kathleen E SullivanDivision of Allergy and Immunology, Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA, USA.
Akiva ZablockiThe Hyper IgM Foundation, New York, NY, USA.
Nitya BakshiPediatric Hematology and Oncology, Department of Pediatrics, Yale School of Medicine, New Haven, CT, USA.
Cynthia SinhaPediatric Biostatistics Core, Department of Pediatrics, Emory University, Atlanta, GA, USA.
Lauri M BurroughsFred Hutchinson Cancer Center and the University of Washington School of Medicine, Seattle, WA, USA.
Alice Y ChanDivision of Pediatric Allergy, Immunology, and Blood and Marrow Transplant, UCSF Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.
Christopher C DvorakDivision of Pediatric Allergy, Immunology, and Blood and Marrow Transplant, UCSF Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.
Elie HaddadDepartment of Pediatrics, Centre Hospitalier Universitaire (CHU) Sainte-Justine, University of Montreal, Montreal, QC, Canada.
Jennifer HeimallDivision of Allergy and Immunology, Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA, USA.
Donald B KohnDepartment of Microbiology, Immunology, and Molecular Genetics, UCLA, Los Angeles, CA, USA.
Jennifer W LeidingCancer and Blood Disorders Institute, Johns Hopkins All Children's Hospital, St. Petersburg, FL, USA.
Luigi D NotarangeloLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID)/NIH, Bethesda, MD, United States of America.
Sung-Yun PaiImmune Deficiency Cellular Therapy Program, Center for Cancer Research, National Cancer Institute (NCI)/NIH, Bethesda, MD, United States of America.
Jennifer M PuckDivision of Pediatric Allergy, Immunology, and Blood and Marrow Transplant, UCSF Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.
Michael A PulsipherDivision of Pediatric Hematology and Oncology, Intermountain Primary Children's Hospital, Huntsman Cancer Institute, Spencer Fox Eccles School of Medicine at the University of Utah, Salt Lake City, UT, USA.
Rebecca A MarshDivision of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Troy TorgersonAllen Institute for Immunology, Seattle, WA, USA.
Morton J CowanDivision of Pediatric Allergy, Immunology, and Blood and Marrow Transplant, UCSF Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.
Hans D OchsDepartment of Pediatrics, University of Washington School of Medicine, and Seattle Children's Research Institute, Seattle, WA, USA.
Suhag ParikhAflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta and Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: suhag.parikh@emory.edu.

Funding

Data Resource for Analyzing Blood &Marrow TransplantsU24CA076518 · NCI · MEDICAL COLLEGE OF WISCONSIN · PI Amy M Moskop, Bronwen Shaw · 1998 to 2026
$105.2M
PB vs. BMU01HL069294 · NHLBI · MEDICAL COLLEGE OF WISCONSIN · PI HOROWITZ, MARY MARESCA · 2001 to 2010
$63.3M
Training of Clinical Investigators in Primary Immune DeficienciesU54AI082973 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI PUCK, JENNIFER M. · 2009 to 2023
$23.3M
Data Management and Coordinating Center (DMCC)U54NS064808 · NINDS · UNIVERSITY OF SOUTH FLORIDA · PI KRISCHER, JEFFREY P · 2009 to 2013
$16.5M
Primary Immune Deficiency Treatment Consortium (PIDTC): A resource to drive scientific and clinical advances related to the treatment of inborn errors of immunityR24AI184316 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Christopher Craig Dvorak, Elie Haddad · 2024 to 2026
$5.3M
Primary Immune Deficiency Treatment Consortium Annual Scientific MeetingR13AI094943 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI PUCK, JENNIFER M. · 2011 to 2025
$239k
NCI NIH HHS U24 CA076518NHLBI NIH HHS U01 HL069294NIAID NIH HHS R13 AI094943NIAID NIH HHS R24 AI184316NIAID NIH HHS U54 AI082973NINDS NIH HHS U54 NS064808
6 · The paper itself

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.

Indexed as

Wiskott-Aldrich SyndromeAdolescentAdultAgedAutoimmune DiseasesEczemaFemaleHeterozygoteHumansMaleMiddle AgedPrevalenceSelf ReportSurveys and QuestionnairesThrombocytopeniaYoung AdultCarriersImmune deficiencyWiskott-Aldrich syndrome

Identifiers

PMID41419161
PMCPMC12856571

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.