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Disease Profile

Autoimmune lymphoproliferative syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

All ages

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ICD-10

D47.9

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome type 1, autosomal dominant;

Categories

Autoimmune / Autoinflammatory diseases; Blood Diseases; Congenital and Genetic Diseases;

Summary

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, panniculitisarthritis, 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]

Symptoms

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.

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 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

Diagnosis

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.

    Organizations

    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

        Learn more

        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

        • MedlinePlus Genetics 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.

            References

            1. Autoimmune lymphoproliferative syndrome. Genetics Home Reference. July 2014; https://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.

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