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Disease Profile
X-linked lymphoproliferative syndrome
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.
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Age of onset
Infancy
ICD-10
D82.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
Other names (AKA)
XLP; X-linked lymphoproliferative disease; Lymphoproliferative disease, X-linked;
Categories
Congenital and Genetic Diseases; Immune System Diseases; Rare Cancers
Summary
- XLP1 is mainly characterized by an inappropriate immune response to Epstein-Barr virus (EBV) infection, leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis; dysgammaglobulinemia; and lymphoproliferative disease (malignant lymphoma).
- XLP2 is usually characterized by HLH (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease (colitis). People with XLP2 have not been known to develop lymphoma.
Signs and symptoms of HLH include fever, enlarged
XLP1 is caused by mutations in the SH2D1A gene, and XLP2 is caused by mutations in the XIAP gene. Inheritance is
The only cure for XLP is allogeneic hematopoietic cell transplantation, which should be considered as early as possible. Treatment of XLP-related HLH may include immunosuppressive agents (such as steroids and etoposide or anti-thymocyte globulin), and rituximab when HLH is associated with EBV infection. Hypogammaglobulinemia is treated with IVIG replacement therapy, and lymphoma is treated with standard
Without treatment, many people with XLP do not survive beyond childhood, usually due to HLH.[3] The average age of death for males has been reported as 11 years (with a range of 2-69 years) for XLP1, and 16 years (with a range of 1-52 years) for XLP2.[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 | ||
Cellular |
0005374 | |
30%-79% of people have these symptoms | ||
Decreased circulating |
0004313 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
Lymphoma |
Cancer of lymphatic system
|
0002665 |
Splenomegaly |
Increased spleen size
|
0001744 |
5%-29% of people have these symptoms | ||
Low number of red blood cells or hemoglobin
|
0001903 | |
1%-4% of people have these symptoms | ||
Aplastic anemia | 0001915 | |
Burkitt lymphoma | 0030080 | |
Dysgammaglobulinemia | 0002961 | |
Fever | 0001945 | |
Fulminant hepatitis | 0004787 | |
Hemophagocytosis | 0012156 | |
Hepatitis |
Liver inflammation
|
0012115 |
Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] |
0002155 |
Hypofibrinogenemia | 0011900 | |
Increased serum ferritin |
Elevated serum ferritin
High ferritin level
Increased ferritin
Increased serum ferritin level
[ more ] |
0003281 |
0001287 | ||
Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ] |
0001875 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
Severe Epstein Barr |
0031693 | |
Vasculitis |
Inflammation of blood vessel
|
0002633 |
Percent of people who have these symptoms is not available through HPO | ||
Acne | 0001061 | |
Colitis | 0002583 | |
Decreased circulating IgG level | 0004315 | |
Encephalitis |
Brain inflammation
|
0002383 |
Erythema nodosum | 0012219 | |
Folliculitis | 0025084 | |
Hepatic |
0002480 | |
Immunodeficiency |
Decreased immune function
|
0002721 |
Increased circulating IgM level | 0003496 | |
Lymphocytosis |
High lymphocyte count
|
0100827 |
Pancytopenia |
Low blood cell count
|
0001876 |
Recurrent fever |
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ] |
0001954 |
Recurrent pharyngitis |
Recurrent sore throat
|
0100776 |
Recurrent skin infections |
Skin infections, recurrent
|
0001581 |
Reduced natural killer |
0012178 | |
Low platelet count
|
0001873 | |
0001417 | ||
0001419 |
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
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Treatment
If a person is identified before EBV exposure, regular infusions with immunoglobulins (IgG replacement therapy) may be recommended to help prevent life-threatening infectious mononucleosis and the onset of other symptoms and findings potentially associated with XLP.[1]
If a person with XLP is diagnosed after EBV exposure, treatment may include therapies to help prevent opportunistic infections associated with XLP, such as
People with XLP are at risk for hemophagocytic lymphohistiocytosis (HLH). HLH is
a condition in which the body makes too many activated immune cells (macrophages and
Bone marrow or stem cell transplant is currently the only definitive treatment for XLP1. A tailored discussion regarding the risks and benefits of transplant for each individual patient is critical.
Some people with XLP have developed B-cell lymphoma. The lymphoma may be treated with surgery, radiation, and/or
Studies investigating novel treatments, such as SLAM family inhibitors,
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
-
Immune Deficiencies Foundation Australia
PO Box 969
Penrith NSW 2751
Australia
Telephone: 800-100-198
E-mail: [email protected]
Website: https://www.idfa.org.au/ -
Jeffrey Modell Foundation (JMF)
780 Third Ave
New York, NY 10017
Fax: 212-764-4180
E-mail: [email protected]
Website: https://www.info4pi.org/
JMF is a global patient organization devoted to early and precise diagnosis, meaningful treatments, and ultimately, cures through clinical and basic research, physician education, patient support, advocacy, public awareness and newborn screening. -
XLP Research Trust
60 Winchester Road
Romsey
Hampshire
SO51 8JA
United Kingdom
Telephone: +44 (0)1794 521077
E-mail: https://www.xlpresearchtrust.org/keepintouch.asp
Website: https://www.xlpresearchtrust.org/
Organizations Providing General Support
-
Immune Deficiency Foundation
110 West Road, Suite 300
Towson, MD 21204
Toll-free: 1-800-296-4433
Fax: +1-410-321-9165
E-mail: https://www.primaryimmune.org/services/ask-idf/
Website: https://www.primaryimmune.org/
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 X-linked lymphoproliferative syndrome. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library 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.
OMIM: X-linked lymphoproliferative syndrome 1
OMIM: X-linked lymphoproliferative syndrome 2 - 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 X-linked lymphoproliferative syndrome. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Panchal N, Booth C, Cannons JL, Schwartzberg PL. X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective. Front Immunol. 2018; 9: 666.
References
- X linked Lymphoproliferative Syndrome. National Organization for Rare Disorders. 2007; https://rarediseases.org/rare-diseases/x-linked-lymphoproliferative-syndrome/.
- Zhang K, Wakefield E, Marsh R. Lymphoproliferative disease, X-linked. GeneReviews. June 30, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1406/.
- X-linked lymphoproliferative disease. Genetics Home Reference (GHR). November, 2014; https://ghr.nlm.nih.gov/condition/x-linked-lymphoproliferative-disease.
- Hemophagocytic Lymphohistiocystosis. Johns Hopkins Medicine Health Library. https://www.hopkinsmedicine.org/healthlibrary/conditions/hematology_and_blood_disorders/hemophagocytic_lymphohistiocystosis_134,212. Accessed 8/9/2018.
- Mononucleosis. Mayo Clinic. January 3, 2018; https://www.mayoclinic.org/diseases-conditions/mononucleosis/symptoms-causes/syc-20350328.
- Panchal N, Booth C, Cannons JL, Schwartzberg PL. X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective. Front Immunol. Apr 4 2018; 9:666:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893764/.
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