National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Wiskott Aldrich syndrome

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Other Names:
WAS; Eczema thrombocytopenia immunodeficiency syndrome; Immunodeficiency 2; WAS; Eczema thrombocytopenia immunodeficiency syndrome; Immunodeficiency 2; IMD 2; Aldrich syndrome See More
Categories:
This disease is grouped under:
Wiskott Aldrich syndrome (WAS) is a disease with immunological deficiency and reduced ability to form blood clots. Signs and symptoms include easy bruising or bleeding due to a decrease in the number and size of platelets; susceptibility to infections and to immune and inflammatory disorders; and an increased risk for some cancers (such as lymphoma).  Also, a skin condition known as eczema is common in  people with WAS.[1][2] Wiskott Aldrich syndrome  is caused by mutations in the WAS gene and is inherited in an X-linked manner.[3] It primarily affects males. Treatment may depend on severity and symptoms in each person, but hematopoietic cell transplantation is the only known cure.[1]  Hematopoietic cells are the blood-forming stem cells that can be found mainly in the sponge-like material found inside bones (bone marrow), but also in the bloodstream (peripheral blood stem cells (PBSCs),  and in the umbilical cord.[4] Prognosis have improved over time due to better management of the disease. People who have a successful and uncomplicated hematopoeitic cell transplantation, usually have normal immune function and, normal survival.[5]

Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked neutropenia (XLN) are known as “WAS-related disorders” because these diseases are all caused by mutations in the WAS gene, and have overlapping symptoms ranging from severe to mild (Wiskott-Aldrich syndrome is the most severe).  The WAS gene mutations result in deficiency of the Wiskott-Aldrich syndrome protein (WASP). The more deficient the WASP, the more severe the disease.[1]
Last updated: 12/5/2017
Common signs and symptoms of Wiskott-Aldrich syndrome include the following.
  • Decreased numbers of platelets (thrombocytopenia), and very small platelets usually present at birth which can result in:
    • Bleeding inside the brain, which can be very fatal
    • Mucosal (such as insed the mouth) bleeding
    • Bloody diarrhea
    • Bruising or purplish areas on the skin or mucous membranes (purpura), caused by bleeding under the skin
    • Pinpoint red spots on the skin (petechiae).
    • Life-threatening bleeding (occurs in 30% of males prior to diagnosis)
  • Red patches of red and irritated skin (eczema), ccurs in about 80% of the cases and can be mild to severe
  • Other skin diseases such as impetigo, cellulitis, and abscesses
  • Increased risk of infections, especially to recurrent bacterial and viral infections, mostly recurrent ear infections and some viruses such as cytomegalovirus (CMV), herpes simplex virus (HSV), Epstein-Barr virus (EBV).
  • Increased risk of developing autoimmune disorders (when the immune system mistakenly attacks the body's own tissues and organs) specially when people get older, and that may include hemolytic anemia (destruction of red blood cells), immune thrombocytopenic purpura, rheumatoid arthritis, vasculitis of small and large vessels, and immune-mediated damage to the kidneys and liver
  • Increased risk of developing some types of cancer, such as lymphoma, especially in people with WAS who had an EBV infection or are older and have an autoimmune disease. 
Last updated: 12/5/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 69 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal platelet morphology
Abnormal shape of platelets
0011875
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising
[ more ] 		0000978
Chronic diarrhea 0002028
Chronic otitis media
Chronic infections of the middle ear
0000389
Chronic pulmonary obstruction 0006510
Fever 0001945
Immunodeficiency
Decreased immune function
0002721
Lymphopenia
Decreased blood lymphocyte number
Low lymphocyte number
[ more ] 		0001888
Prolonged bleeding time 0003010
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] 		0002205
Sinusitis
Sinus inflammation
0000246
Spontaneous hematomas 0007420
Thrombocytopenia
Low platelet count
0001873
30%-79% of people have these symptoms
Abnormal eosinophil morphology 0001879
Autoimmunity
Autoimmune disease
Autoimmune disorder
[ more ] 		0002960
Dyspnea
Trouble breathing
0002094
Fatigue
Tired
Tiredness
[ more ] 		0012378
Hematemesis
Vomitting blood
0002248
Hematochezia
Rectal bleeding
0002573
Hemolytic anemia 0001878
Inflammation of the large intestine 0002037
Microcytic anemia 0001935
Petechiae 0000967
Specific learning disability 0001328
5%-29% of people have these symptoms
Abnormal platelet function 0011869
Abnormality of the menstrual cycle 0000140
Acute leukemia 0002488
Arthritis
Joint inflammation
0001369
Blepharitis
Inflammation of eyelids
0000498
Chest pain 0100749
Chronic leukemia 0005558
Conjunctivitis
Pink eye
0000509
Eczema 0000964
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ] 		0000421
Gingival bleeding
Bleeding gums
0000225
Glomerulopathy 0100820
Hyperostosis
Bone overgrowth
0100774
Hypoplasia of the thymus
Small thymus
0000778
Intracranial hemorrhage
Bleeding within the skull
0002170
Keratitis
Corneal inflammation
0000491
Lymphoma
Cancer of lymphatic system
0002665
Meningitis 0001287
Nephropathy 0000112
Neutropenia
Low blood neutrophil count
Low neutrophil count
[ more ] 		0001875
Peripheral neuropathy 0009830
Recurrent intrapulmonary hemorrhage
Recurrent bleeding into lungs
0006535
Sepsis
Infection in blood stream
0100806
Skin ulcer
Open skin sore
0200042
Sudden cardiac death
Premature sudden cardiac death
0001645
Urticaria
Hives
0001025
Vasculitis
Inflammation of blood vessel
0002633
Percent of people who have these symptoms is not available through HPO
Abnormal delayed hypersensitivity skin test 0002963
Absent microvilli on the surface of peripheral blood lymphocytes 0002971
Decreased circulating total IgM 0002850
Decreased mean platelet volume
Small platelet size
Small platelets
Small platelets size
[ more ] 		0005537
Decreased specific anti-polysaccharide antibody level 0002848
Increased circulating IgA level 0003261
Increased circulating IgE level 0003212
Iron deficiency anemia 0001891
Large vessel vasculitis 0005310
Melena 0002249
Oral bleeding 0040184
Otitis media
Middle ear infection
0000388
Pneumonia 0002090
Recurrent lower respiratory tract infections
Recurrent chest infections
0002783
Recurrent upper respiratory tract infections
Recurrent colds
0002788
Reduced lymphocyte surface expression of CD43 0001983
Small vessel vasculitis 0011944
X-linked recessive inheritance 0001419
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Last updated: 7/1/2020
Wiskott Aldrich syndrome (WAS) is inherited in an X-linked recessive manner. A condition is X-linked if the responsible gene is located on the X chromosome. The X chromosome is one of the two sex chromosomes (the other sex chromosome is the Y chromosome). Females have two X chromosomes in each cell and males have an X chromosome and a Y chromosome in each cell.

Although females have two X chromosomes, one of the X chromosomes in each cell is "turned off" and all of the genes on that chromosome are inactivated. Females who have a mutation in a gene on one of their X chromosomes are called carriers of the related condition. Carrier females usually do not have symptoms of the condition because usually the X chromosome with the mutated gene is turned off. Therefore, they have another X chromosome with a working copy of the gene. Sometimes, the X chromosome with the working copy of the gene is turned off, which may cause symptoms of the condition. However, females with symptoms are usually much more mildly affected than males. A male has only one X chromosome, so if he inherits a mutation on the X chromosome, he will have signs and symptoms (be affected).

Males with an X-linked recessive condition always pass the mutated gene to all of their daughters, who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome to male offspring.[6]

Female carriers of an X-linked recessive condition have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have an affected son, and a 25% chance to have an unaffected son.[6] This also means that each daughter of a carrier mother has a 50% chance of being a carrier, and each son has a 50% chance of having the condition.
Last updated: 4/10/2015

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Main differential diagnosis is acute or chronic idiopathic thrombocytopenia (ITP) or platelet alloimmunization in neonates.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Wiskott Aldrich syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Wiskott Aldrich syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Wiskott Aldrich syndrome:
    European Society for Immunodeficiencies (ESID) Registry
    United States Immunodeficiency Network (USIDENT) Registry
     
  • The Primary Immune Deficiency Treatment Consortium (PIDTC) is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with severe combined immunodeficiency, Wiskott-Aldrich syndrome, and chronic granulomatous disease through research. The Primary Immune Deficiency Treatment Consortium (PIDTC) has a registry for patients who wish to be contacted about clinical research opportunities.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Wiskott Aldrich syndrome. This website is maintained by the National Library of Medicine.
  • The Merck Manual provides information on this condition for patients and caregivers. 
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Wiskott Aldrich syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Filipovich AH, Johnson J & Zhang K. WAS-Related Disorders. GeneReviews. 2016; http://www.ncbi.nlm.nih.gov/books/NBK1178/.
  2. Clinical Diagnostic criteria for PID. European Society for Immunodeficiencies. https://esid.org/Working-Parties/Clinical/Resources/Diagnostic-criteria-for-PID2.
  3. Wiskott-Aldrich syndrome. Genetics Home Reference. February, 2013; http://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome.
  4. Blood-Forming Stem Cell Transplants. National Cancer Institute. 2013; https://www.cancer.gov/about-cancer/treatment/types/stem-cell-transplant/stem-cell-fact-sheet#q1.
  5. Schwartz RA. Pediatric Wiskott-Aldrich Syndrome. Medscape Reference. March 3, 2017; https://emedicine.medscape.com/article/888939-overview#a8.
  6. WAS Related Disorders. NORD. February 15, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/76/viewAbstract.