X-linked lymphoproliferative disease due to SH2D1A deficiency

Title

Other Names:

XLP1; Lymphoproliferative syndrome X-linked 1; Lymphoproliferative syndrome, X-linked, 1; XLP1; Lymphoproliferative syndrome X-linked 1; Lymphoproliferative syndrome, X-linked, 1; SH2D1A-Related Lymphoproliferative Disease, X-Linked; X-linked lymphoproliferative syndrome 1 See More

Categories:

Congenital and Genetic Diseases; Immune System Diseases; Rare Cancers

This disease is grouped under:

T cell immunodeficiency primary

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Cellular immunodeficiency		0005374
30%-79% of people have these symptoms
Decreased circulating antibody level		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
Anemia	Low number of red blood cells or hemoglobin	0001903
Percent of people who have these symptoms is not available through HPO
Decreased circulating IgG level		0004315
Encephalitis	Brain inflammation	0002383
Fulminant hepatitis		0004787
Hepatic encephalopathy		0002480
Immunodeficiency	Decreased immune function	0002721
Increased circulating IgM level		0003496
Lymphocytosis	High lymphocyte count	0100827
Meningitis		0001287
Pancytopenia	Low blood cell count	0001876
Recurrent pharyngitis	Recurrent sore throat	0100776
Reduced natural killer cell activity		0012178
Thrombocytopenia	Low platelet count	0001873
X-linked recessive inheritance		0001419

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2020

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Treatment Treatment

X-linked lymphoproliferative syndrome treatment requires the coordinated effort of a team of specialists, such as a pediatrician or internist, immunologist, hematologist, and oncologist.^[1] Because XLP can cause life-threatening conditions, it is important to identify males with XLP as soon as possible. Close monitoring (such as of EBV viral loads, IgG levels, blood counts, liver tests, inflammatory marker, coagulation studies as needed) is a very important aspect of care. Treatment will vary depending on a variety of factors, including the severity of a person’s symptoms. ^[1]^[2]

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 antibiotic medications, intravenous gammaglobulin therapy, and rituximab (to deplete B-cells harboring EBV).^[2]^[1]

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 lymphocytes). Treatment of HLH may include a combination of strong immune suppressing medications followed by a stem cell transplant.^[1]^[3]^[2] Studies on new treatments for HLH have been completed in recent years (e.g., anti-thymocyte globulin), and others are underway (Toculizumab, Novimmune NI-0501, and Ruxolitinib).^[3] It is hoped that new medications will improve success rates and long term outlook for people with HLH who undergo stem cell transplant.

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 chemotherapy. Genetic counseling should be offered to people with XLP and their families. Other treatment is symptomatic and supportive.

Studies investigating novel treatments, such as SLAM family inhibitors, gene editing, and gene therapy, have been underway.^[2] Improvements in gene therapy techniques have resulted in better outcomes and less risk for adverse reactions. Gene therapy clinical trials may soon prove this approach to be a viable alternative to stem cell transplant.^[2]

Last updated: 5/10/2018

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

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 X-linked lymphoproliferative disease due to SH2D1A deficiency. 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 X-linked lymphoproliferative disease due to SH2D1A deficiency. 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 X-linked lymphoproliferative disease due to SH2D1A deficiency:
United States Immunodeficiency Network (USIDENT) Registry

Organizations 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: info@idfa.org.au
Website: http://www.idfa.org.au/
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/
Jeffrey Modell Foundation (JMF)
780 Third Ave
New York, NY 10017
Fax: 212-764-4180
E-mail: info@jmfworld.org
Website: http://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: http://www.xlpresearchtrust.org/keepintouch.asp
Website: http://www.xlpresearchtrust.org/

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More 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

Genetics Home Reference (GHR) contains information on X-linked lymphoproliferative disease due to SH2D1A deficiency. 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.

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 X-linked lymphoproliferative disease due to SH2D1A deficiency. 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.

News & Events News & Events

News

Rare Diseases Are Not Rare - Gallery of Creative Work Raises Awareness of Rare Diseases
September 1, 2020
NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

GARD Answers GARD Answers

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.

Have a question? Contact a GARD Information Specialist.

References References

X linked Lymphoproliferative Syndrome. National Organization for Rare Disorders. 2007; https://rarediseases.org/rare-diseases/x-linked-lymphoproliferative-syndrome/.
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/.
Zhang K, Wakefield E, Marsh R. Lymphoproliferative disease, X-linked. GeneReviews. June 30, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1406/.

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