Overview
Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency disorder caused by pathogenic variants in the WAS gene located on chromosome Xp11.23, which encodes the Wiskott-Aldrich syndrome protein (WASp). This protein plays a critical role in cytoskeletal signaling in hematopoietic cells, affecting immune cell function and platelet production. The disease is characterized by a classic triad of microthrombocytopenia (small and reduced-number platelets), eczema, and recurrent infections due to combined immunodeficiency. It primarily affects males, while females are typically carriers. The condition affects multiple body systems, most prominently the immune system and blood. Patients experience bleeding complications due to thrombocytopenia, including petechiae, bruising, bloody diarrhea, and potentially life-threatening intracranial hemorrhage. Recurrent bacterial, viral, and opportunistic infections occur due to impaired T-cell and B-cell function, as well as defective innate immunity. Eczema, often resembling atopic dermatitis, can range from mild to severe. Patients are also at significantly increased risk of developing autoimmune conditions (such as autoimmune hemolytic anemia, vasculitis, and inflammatory bowel disease) and lymphoid malignancies, particularly non-Hodgkin lymphoma and other lymphoproliferative disorders. The current treatment landscape includes supportive care with prophylactic antibiotics, antiviral and antifungal agents, immunoglobulin replacement therapy, and platelet transfusions for severe bleeding. Hematopoietic stem cell transplantation (HSCT) remains the standard curative treatment, with excellent outcomes when performed early from a matched donor. Gene therapy has emerged as a promising alternative for patients lacking suitable donors, with clinical trials demonstrating encouraging results using lentiviral vector-based approaches to restore WASp expression. Splenectomy may improve platelet counts but increases infection risk and is generally avoided if transplantation is planned.
Also known as:
Clinical phenotype terms— hover any for plain English:
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
10 eventsMilton S. Hershey Medical Center — NA
Boehringer Ingelheim — PHASE3
The Dental Hospital of Zhejiang University School of Medicine — NA
Waskyra: FDA approved
treatment of pediatric patients aged 6 months and older and adults with Wiskott-Aldrich Syndrome (WAS) who have a mutation in the WAS gene and for whom hematopoietic stem cell transplantation (HSCT) is appropriate and no suitable human leukocyte antigen (HLA)-matched related stem cell donor is available
Postgraduate Institute of Dental Sciences Rohtak — NA
Chulalongkorn University — NA
GCS Ramsay Santé pour l'Enseignement et la Recherche — NA
Xuanwu Hospital, Beijing — NA
University Hospital, Strasbourg, France
Second Hospital of Shanxi Medical University — EARLY_PHASE1
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
2 availableDoptelet
Treatment of thrombocytopenia in adult patients with chronic liver disease who are scheduled to undergo a procedure
Waskyra
treatment of pediatric patients aged 6 months and older and adults with Wiskott-Aldrich Syndrome (WAS) who have a mutation in the WAS gene and for whom hematopoietic stem cell transplantation (HSCT) i…
treatment of pediatric patients aged 6 months and older and adults with Wiskott-Aldrich Syndrome (WAS) who have a mutation in the WAS gene and for whom hematopoietic stem cell transplantation (HSCT) is appropriate and no suitable human leukocyte antigen (HLA)-matched related stem cell donor is available
Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Wiskott-Aldrich syndrome.
Community
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Start the conversation →Latest news about Wiskott-Aldrich syndrome
Disease timeline:
New recruiting trial: Optimal Timing of Euploid Day 6 Blastocyst Transfer in Frozen HRT Cycles, Day 6 or Day 7 of Progesterone Administration.
A new clinical trial is recruiting patients for Wiskott-Aldrich syndrome
New recruiting trial: The Safety and Effectiveness of Palonosetron Hydrochloride Capsule Was Used to CINV
A new clinical trial is recruiting patients for Wiskott-Aldrich syndrome
New recruiting trial: An Evaluation of LY007 Cell Injection for r/r B-NHL
A new clinical trial is recruiting patients for Wiskott-Aldrich syndrome
New recruiting trial: Long Term Follow-up of Cardiac Arrest Survivors Exposed to Ultra-rapid Cooling
A new clinical trial is recruiting patients for Wiskott-Aldrich syndrome
New recruiting trial: Register With Patients in Which Hyperthermic Intra-Peritoneal Chemotherapy (HIPEC) Was Performed
A new clinical trial is recruiting patients for Wiskott-Aldrich syndrome
New recruiting trial: Responsiveness of Hindi Version of Oral Health Impact Profile for Periodontitis (OHIP-P-HIN)
A new clinical trial is recruiting patients for Wiskott-Aldrich syndrome
New recruiting trial: PARPi or Capecitabine Combined With PD-1 Inhibitors as Adjuvant Therapy in High-risk TNBC
A new clinical trial is recruiting patients for Wiskott-Aldrich syndrome
New recruiting trial: Outcomes of Children in Whom a Prenatal Exome Was Performed Based on Ultrasound Findings
A new clinical trial is recruiting patients for Wiskott-Aldrich syndrome
New recruiting trial: A Pan-cancer Screening and Diagnosis Model Based on Abdominal CT Was Established
A new clinical trial is recruiting patients for Wiskott-Aldrich syndrome
New recruiting trial: An Evaluation of LY007 Cell Injection for r/r B-NHL
A new clinical trial is recruiting patients for Wiskott-Aldrich syndrome
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Wiskott-Aldrich syndrome
What is Wiskott-Aldrich syndrome?
Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency disorder caused by pathogenic variants in the WAS gene located on chromosome Xp11.23, which encodes the Wiskott-Aldrich syndrome protein (WASp). This protein plays a critical role in cytoskeletal signaling in hematopoietic cells, affecting immune cell function and platelet production. The disease is characterized by a classic triad of microthrombocytopenia (small and reduced-number platelets), eczema, and recurrent infections due to combined immunodeficiency. It primarily affects males, while females are typically carri
How is Wiskott-Aldrich syndrome inherited?
Wiskott-Aldrich syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Wiskott-Aldrich syndrome typically begin?
Typical onset of Wiskott-Aldrich syndrome is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for Wiskott-Aldrich syndrome?
Yes — 2 recruiting clinical trials are currently listed for Wiskott-Aldrich syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Wiskott-Aldrich syndrome?
9 specialists and care centers treating Wiskott-Aldrich syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Wiskott-Aldrich syndrome?
1 patient support program are currently tracked on UniteRare for Wiskott-Aldrich syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.