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$Unique_ID{BRK04341}
$Pretitle{}
$Title{X-Linked Lymphoproliferative Syndrome}
$Subject{X-Linked Lymphoproliferative Syndrome Immunodeficiency X-Linked
Progressive Combined Variable Duncan Disease X-Linked Lymphoproliferative
Disease XLPD XLP EBV Susceptibility EBVS Immunodeficiency-5 IMD5 Infectious
Mononucleosis Susceptibility IMS Chronic Fatigue Syndrome Infectious
Mononucleosis Malignant Lymphoma Non-Hodgkin's Hypogammaglobulinemia }
$Volume{}
$Log{}
Copyright (C) 1989 National Organization for Rare Disorders, Inc.
729:
X-Linked Lymphoproliferative Syndrome
** IMPORTANT **
It is possible that the main title of the article (X-Linked
Lymphoproliferative Syndrome) is not the name you expected. Please check the
SYNONYM listing to find the alternate names and disorder subdivisions covered
by this article.
Synonyms
Immunodeficiency, X-Linked Progressive Combined Variable
Duncan Disease
X-Linked Lymphoproliferative Disease
XLPD
XLP
EBV Susceptibility
EBVS
Immunodeficiency-5
IMD5
Infectious Mononucleosis Susceptibility
IMS
Information on the following diseases can be found in the Related
Disorders section of this report:
Chronic Fatigue Syndrome
Infectious Mononucleosis
Malignant Lymphoma, Non-Hodgkin's
Hypogammaglobulinemia
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only. It should not be used for diagnostic or treatment
purposes. If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.
X-linked Lymphoproliferative Syndrome is a very rare life-threatening
genetic disease of the immune system that affects only males, making them
vulnerable to death from the Epstein-Barr Virus which causes mononucleosis.
Symptoms
X-Linked Lymphoproliferative Syndrome (XLP) is a rare inherited immune
deficiency. Most people are exposed to the Epstein Barr virus during
childhood or adolescence, and they recover from infectious mononucleosis
without long lasting effects. However, mononucleosis in males with the XLP
defect can be life-threatening. Additionally, these males are susceptible to
other life-threatening diseases such as lymphomas and hypogammaglobulinemia.
There are usually no symptoms of XLP until the patient contracts the
Epstein-Barr virus. When this happens the person becomes extremely ill with
infectious mononucleosis, or non-Hodgkin's malignant lymphoma, or
hypogammaglobulinemia (an insufficient level of gammaglobulin in the body
which is needed to fight off common infections). The disease can be fatal in
60 to 75% of these male patients.
Causes
The cause of X-Linked Lymphoproliferative Syndrome is thought to be a rare
recessive genetic defect located on the X chromosome. Human traits,
including the classic genetic diseases, are the product of the interaction of
two genes, one received from the father and one from the mother. X-linked
recessive disorders are conditions which are coded on the X chromosome.
Females have two X chromosomes, but males have one X chromosome and one Y
chromosome. Therefore, in females, disease traits on the X chromosome can be
masked by the normal gene on the other X chromosome. Since males only have
one X chromosome, if they inherit a gene for a disease present on the X, it
will be expressed. Men with X-linked disorders transmit the gene to all
their daughters, who are carriers, but never to their sons. Women who are
carriers of an X-linked disorder have a fifty percent risk of transmitting
the carrier condition to their daughters, and a fifty percent risk of
transmitting the disease to their sons.
Scientists are still working to find the exact location of the defective
gene that causes X-Linked Lymphoproliferative Syndrome.
Affected Population
X-Linked Lymphoproliferative Syndrome affects only males who carry the
defective gene and who become infected by the Epstein-Barr virus. The great
majority of adults in the U.S. have been exposed to the E-B virus by the time
they reach adulthood. In many cases mononucleosis is very mild during
childhood and is misdiagnosed as a sore throat or nonspecific viral
infection. Immunity lasts throughout life once a person has been infected.
Related Disorders
The following disorders may have symptoms that are similar to mononucleosis.
However, people with XLP have more intense life threatening symptoms:
Chronic Fatigue Syndrome is characterized by severe fatigue that lasts
for weeks or months and is severe enough to significantly limit daily
activities. Symptoms include mild fever, sore throat, painful lymph nodes in
the neck or armpits, generalized weakness of muscles with pain or discomfort,
headaches, joint pains that come and go, vision problems, or sleep
disturbances. Symptoms often begin following a flu-like illness. The intense
fatigue can mimic weakness associated with mononucleosis, but the Epstein
Barr virus is not related to Chronic Fatigue Syndrome. (For more information
on this disorder, choose "Chronic Fatigue" as your search term in the Rare
Disease Database).
Infectious Mononucleosis is a common infectious disease caused by the
Epstein-Barr virus that is also known as the "kissing disease" or "Glandular
Fever." Symptoms include fever, severe fatigue, swollen lymph glands, and an
abnormally large number of white blood cells in the blood. These white blood
cells can look like certain leukemia cells that sometimes tests are needed to
determine exactly which disease the patient has. In mild cases the disorder
may not be diagnosed because it appears like a mild viral infection. In more
severe cases it may take 6 to 8 weeks or longer for recovery which usually
occurs without treatment.
Malignant Lymphoma is a type of cancer that appears most often in the
lymph nodes, spleen, or other normal sites of lymphoreticular cells. It may
invade the blood and manifest itself as leukemia. It can be located in
almost any part of the body. There are many different types of Lymphoma that
are classified by cell type, degrees of differentiation, and nodular pattern.
Hypogammaglobulinemia is a disorder of antibody production and/or
function which cannot be attributed to some other underlying illness. Low
levels of gammaglobulin leads to insufficient antibodies that are needed to
resist and overcome common infections. People with this disorder are
susceptible to infections that can become life-threatening due to their
impaired immune system. (For more information on this disorder, choose
"Agammaglobulinemia" as your search term in the Rare Disease Database).
Therapies: Standard
Treatment of X-Linked Lymphoproliferative Syndrome is symptomatic and
supportive. In cases of hypogammaglobulinemia, gammaglobulin can be
prescribed to boost the immune system. Genetic counseling will be of benefit
for patients and their families.
Therapies: Investigational
Scientists are studying the chromosomes of X-Linked Lymphoproliferative
Syndrome patients through DNA probes. It is hoped that the gene defect which
causes this syndrome will be identified in the near future.
The drug recombinant interferon-gamma (IFN-gamma) is being tested as a
possible treatment for XLP. More studies are necessary to determine safety
and effectiveness of this treatment.
This disease entry is based upon medical information available through
January 1990. 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.
Resources
For more information on X-linked Lymphoproliferative Syndrome, please
contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Allergy and Infectious Diseases
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
Physicians may refer patients with XLP who wish to participate in genetic
studies to:
Dr. James Skare
Boston University School of Medicine
Center for Human Genetics
Boston, MA 02118
For genetic information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins
University Press, 1986. Pp. 1329.
MARKERS MAPPED FOR LIFE-THREATENING DISORDER, James Skare, Research
Resources Reporter, National Institutes of Health (June, 1989, issue XIII
(6)). Pp. 6-7.
MALIGNANT LYMPHOMA IN THE X-LINKED LYMPHOPROLIFERATIVE SYNDROME. D.S.
Harrington, et al.; Cancer, (April 15, 1987, issue 59 (8)). Pp. 1419-1429.
EPSTEIN-BARR VIRUS INFECTIONS IN MALES WITH THE X-LINKED
LYMPHOPROLIFERATIVE SYNDROME, H. Grierson, et al.; Ann Intern Med, (April,
1987, issue 106 (4)). Pp. 538-545.
X-LINKED LYMPHOPROLIFERATIVE DISEASE: A KARYOTYPE ANALYSIS, A. Harris, et
al.; Cytogenet Cell Genet, (1988, issue 47 (1-2)). Pp. 92-94.
INTERFERON-GAMMA IN A FAMILY WITH X-LINKED LYMPHOPROLIFERATIVE SYNDROME
WITH ACUTE EPSTEIN-BARR VIRUS INFECTION. M. Okano, et al.; J Clin Immunol
(January, 1989, issue 9 (1)). Pp. 48-54.