X linked Lymphoproliferative Syndrome

Content provided by National Organization for Rare Disorders

Important

It is possible that the main title of the report X linked Lymphoproliferative Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

• Duncan Disease
• EBV Susceptibility (EBVS)
• Epstein-Barr Virus-Induced Lymphoproliferative Disease in Males
• Immunodeficiency-5 (IMD5)
• X-Linked Progressive Combined Variable Immunodeficiency
• Purtilo Syndrome
• XLP

Disorder Subdivisions

• None

General Discussion

X-linked lymphoproliferative (XLP) syndrome is an extremely rare inherited (primary) immunodeficiency disorder characterized by a defective immune system that is powerfully responsive to infection with the Epstein-Barr virus (EBV). This virus is common among the general population and is relatively well-known because it is the cause of infectious mononucleosis (IM), usually with no long-lasting effects. However, in individuals with XLP, exposure to EBV may result in severe, life-threatening fulminant hepatitis; abnormally low levels of antibodies in the blood and body secretions (hypogammaglobulinemia), resulting in increased susceptibility to various infections; malignancies of certain types of lymphoid tissue (B-cell lymphomas); and/or other abnormalities. The range of symptoms and findings associated with XLP may vary considerably from case to case. In addition, the range of effects may change in an affected individual over time. In most cases, individuals with XLP experience an onset of symptoms anytime from ages about 6 months to 10 years of age.

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)428-7100

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



Immune Deficiency Foundation

40 West Chesapeake Avenue

Suite 308

Towson, MD 21230

Tel: (410)321-6647

Fax: (410)321-9165

Tel: (800)296-4433

Email: idf@primaryimmune.org

Internet: http://www.primaryimmune.org



NIH/National Institute of Allergy and Infectious Diseases

6610 Rockledge Drive

MSC 6612

Bethesda, MD 20892-6612

Tel: (301)496-5717

Fax: (301)402-3573

TDD: (800)877-8339

Internet: http://www.niaid.nih.gov/



National Cancer Institute

6116 Executive Blvd, MSC 8322, Room 3036A

Bethesda, MD 20892-8322

USA

Tel: 3014353848

Tel: 8004226237

TDD: 8003328615

Internet: http://www.cancer.gov



Center for International Blood and Marrow Transplant Research

Medical College of Wisconsin

8701 Watertown Plank Road

Milwaukee, WI 53226

Tel: (414)456-8325

Fax: (414)456-6530

Email: mnugent@hpi.mcw.edu

Internet: http://www.ibmtr.org; http://www.cibmtr.org



National Bone Marrow Transplant Link

20411 W. 12 Mile Rd

Suite 108

Southfield, MI 48076

Tel: (248)358-1886

Fax: (248)358-1889

Tel: (800)546-5268

Email: info@nbmtlink.org

Internet: http://www.nbmtlink.org



OncoLink: The University of Pennsylvania Cancer Center Resource

3400 Spruce Street

2 Donner

Philadelphia, PA 19104-4283

USA

Tel: 2153495445

Fax: 2153495445

Email: editors@oncolink.upenn.edu

Internet: http://www.oncolink.upenn.edu



International Patient Organization for Primary Immunodeficiencies

Firside

Main Road

Downderry

Cornwall, PL11 3LE

United Kingdom

Tel: 44 1503 250 668

Fax: 44 1503 250 668

Email: info@ipopi.org

Internet: http://www.ipopi.org/



Jeffrey Modell Foundation

747 Third Ave

34th Floor

New York, NY 10017

USA

Tel: 2128190200

Fax: 2127644180

Tel: 8664696474

Email: info@jmfworld.org

Internet: http://www.info4pi.org



NIH/Hematology Branch, National Heart, Lung and Blood Institute (NHLBI)



Tel: (301)402-0764

Fax: (301)402-3088

Email: zamaniw@nhlbi.nih.gov

Internet: http://www.nhlbi.nih.gov/nhlbi/seekpat/hematol.htm



XLP Research Trust

60 Winchester Road

Romsey

Hampshire, 5051 8JA

United Kingdom

Tel: +44 1794 521077

Email: info@xlpresearchtrust.org

Internet: http://www.xlpresearchtrust.org



European Society for Immunodeficiencies (ESID)

c/o Dr. Esther de Vries

Jeroen Bosch Hospital

Dept. Paediatrics

P.O. Box 90153

Hertogenbosch, 5200 ME's

Netherlands

Tel: +31 73-6992965

Fax: +31 73-6992948

Email: info@esid.org

Internet: http://www.esid.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  9/23/2007

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Last updated:	September 23, 2007