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. 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.
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||
|80%-99% of people have these symptoms|
|30%-79% of people have these symptoms|
Swollen lymph nodes
Increased spleen size
|5%-29% of people have these symptoms|
Low number of red blood cells or hemoglobin
|1%-4% of people have these symptoms|
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides[ more ]
|Increased serum ferritin||
Elevated serum ferritin
High ferritin level
Increased serum ferritin level[ more ]
|Percent of people who have these symptoms is not available through HPO|
Decreased immune function
|Increased IgM level||0003496|
Low blood cell count
Recurrent sore throat
|Reduced natural killer
Low platelet count
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.
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
Differential diagnoses include other hereditary forms of HLH (familial lymphohistiocytosis; see this term) and HLH acquired through infection with EBV.
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.
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.
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.
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.
The XLP Research Trust Symposium 2018
Monday, October 29, 2018
Location: London, England
Description: This 5th XLP symposium for researchers and clinicians will be held on the 29th October 2018 in Central London. Applications to present a paper at the event must be received by Friday June 22nd. Registration is £50.00 (plus a small booking fee). The symposium will be held at SAS office near Liverpool Street station, on the edge of the City of London and Shoreditch.
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