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

Autoimmune lymphoproliferative syndrome


Other Names:
ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome type 1, autosomal dominant; ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome type 1, autosomal dominant; FAS deficiency See More
Categories:
Autoimmune lymphoproliferative syndrome (ALPS) is a disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). This results in the overproduction of lymphocytes, which build up and cause enlargement of the lymph nodes, liver and spleen. Affected individuals have an increased risk of developing cancer of the immune system cells (lymphoma) and may be at increased risk for other cancers. They can also have a variety of autoimmune disorders, most of which damage the blood cells. Some of the autoimmune disorders associated with ALPS can also damage the kidneys, liver, eyes, nerves, or connective tissues. Other signs and symptoms may include skin rashes, panniculitis, arthritis, inflammation of blood vessels (vasculitis), mouth sores, premature ovarian failure, and the development of neurological damage.[1]

ALPS is caused by mutations in the FAS gene in about 75% of cases. It is usually inherited in an autosomal dominant manner, although a small number of cases are inherited in an autosomal recessive manner. Some cases are also believed to arise from a mutation in the lymphocytes that is not inherited, but instead occurs during the course of an individual's lifetime. This type of alteration is called a somatic mutation.[1] Treatment may include steroids or other medications, blood transfusions, and/or splenectomy depending on the severity of the disorder.[2]

Last updated: 8/16/2016

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 68 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Chronic noninfectious lymphadenopathy 0002730
Splenomegaly
Increased spleen size
0001744
30%-79% of people have these symptoms
Abnormal serum interleukin level 0030782
Autoimmune hemolytic anemia 0001890
Autoimmune thrombocytopenia 0001973
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising
[ more ] 		0000978
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells 0002851
Hepatomegaly
Enlarged liver
0002240
Hypersplenism 0001971
Increased B cell count 0005404
Increased circulating IgG level 0003237
Neutropenia in presence of anti-neutropil antibodies 0001904
5%-29% of people have these symptoms
Abnormal proportion of CD4-positive T cells 0031392
Abnormal proportion of CD8-positive T cells 0031393
Abnormal vitamin B12 level 0040126
Antineutrophil antibody positivity 0003453
Antinuclear antibody positivity 0003493
Antiphospholipid antibody positivity 0003613
B-cell lymphoma 0012191
Burkitt lymphoma 0030080
Coombs-positive hemolytic anemia 0004844
Decreased circulating IgG level 0004315
Decreased circulating total IgM 0002850
Decreased proportion of CD4-positive helper T cells 0005407
Decreased specific anti-polysaccharide antibody level 0002848
Eosinophilia
High blood eosinophil count
0001880
Glomerulonephritis 0000099
Hepatitis
Liver inflammation
0012115
Hodgkin lymphoma 0012189
Increased circulating IgA level 0003261
Increased circulating IgE level 0003212
Reticulocytosis
Increased immature red blood cells
Increased number of immature red blood cells
[ more ] 		0001923
Rheumatoid factor positive 0002923
T-cell lymphoma 0012190
Thyroiditis
Thyroid gland inflammation
0100646
Urticaria
Hives
0001025
Vasculitis
Inflammation of blood vessel
0002633
1%-4% of people have these symptoms
Arthritis
Joint inflammation
0001369
Basal cell carcinoma 0002671
Bone marrow hypercellularity 0031020
Bone marrow hypocellularity
Bone marrow failure
0005528
Colitis 0002583
Fibroadenoma of the breast 0010619
Gastritis
Stomach inflammation
0005263
Headache
Headaches
0002315
Hepatocellular carcinoma 0001402
Hydrops fetalis 0001789
Neoplasm of the tongue 0100648
Panniculitis
Inflammation of fat tissue
0012490
Premature ovarian insufficiency
Early menopause
Premature menopause
Premature ovarian failure
[ more ] 		0008209
Pulmonary fibrosis 0002206
Pulmonary infiltrates
Lung infiltrates
0002113
Recurrent aphthous stomatitis
Recurrent canker sores
0011107
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Seizure 0001250
Systemic lupus erythematosus 0002725
Thyroid adenoma 0000854
Thyroid carcinoma 0002890
Uveitis 0000554
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Decreased lymphocyte apoptosis 0002731
Follicular hyperplasia 0002729
Increased circulating IgM level 0003496
Increased proportion of HLA DR+ T cells 0002853
Iron deficiency anemia 0001891
Platelet antibody positive 0003454
Reduced delayed hypersensitivity 0002972
Smooth muscle antibody positivity 0003262
Showing of 68 |
Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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

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 Autoimmune lymphoproliferative 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

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

Organizations Providing General Support

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 Autoimmune lymphoproliferative syndrome. This website is maintained by the National Library of Medicine.

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 Autoimmune lymphoproliferative 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. Autoimmune lymphoproliferative syndrome. Genetics Home Reference. July 2014; http://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome.
  2. Autoimmune Lymphoproliferative Syndrome (ALPS). National Institute of Allergy and Infection Diseases. November 30, 2017; https://www.niaid.nih.gov/diseases-conditions/autoimmune-lymphoproliferative-syndrome-alps.