X-LINKED LYMPHOPROLIFERATIVE
DISEASE
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ALTERNATE NAMES
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Duncan Syndrome; Duncan Disease; Epstein-Barr Virus-Induced Lymphoproliferative Disease
in Males; Immunodeficiency-5 (IMD5); EBV Susceptibility (EBVS); Purtilo syndrome
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DESCRIPTION
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X-Linked Lymphoproliferative Disease (XLD) is an immune system disorder that is found almost exclusively in males. Individuals
with XLD have an increased risk of infection because their body cannot properly regulate
the number of immune system cells (lymphocytes) and blood cells. People have two
main types of lymphocytes, B cells and T cells, which work together to clear infections
and keep the immune system in check. Individuals with XLD lack the proper regulation
between B cells and T cells and are therefore unable to affectively destroy invading
viruses, such as the usually harmless Epstein-Barr virus (EBV). Typically, individuals
with XLD do not display severe symptoms of a compromised immune system until they
have been exposed to EBV. EBV infections, however, are common and can become life-threatening
in people with XLD resulting in symptoms that include fever, hepatitis, an enlarged
spleen, abnormally low numbers of antibodies, and, in some cases, lymphoma and other
blood disorders. XLD is caused by mutations in the SH2D1A gene which makes a protein
SAP, a key regulator in immunity, as well as the XIAP gene. XLD is inherited in an
X-linked recessive pattern.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: A definitive diagnosis of XLD is based on:
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Genetic analysis for mutations in the SH2D1A gene and XIAP gene;
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CT or MRI scans of the liver and spleen showing abnormal enlargement;
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Laboratory testing showing abnormally high concentrations of lymphocytes in the blood
(lymphocytosis);
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Laboratory tests showing deficient or absent antibody response to EBV antigens (e.g.,
EBV nuclear antigen);
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Laboratory tests showing abnormally low levels of all classes of immunoglobulins (acquired
hypogammaglobulinemia) in the blood and body secretions.
Physical findings: Findings may include:
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Infectious mononucleosis;
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Lymphoid granulomatosis of the lungs;
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Meningitis or encephalitis;
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Thrombocytopenia or bone marrow failure; and
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ICD-9:
238.79
ICD-10: D82.3
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PROGRESSION
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XLD is generally diagnosed between the ages of six months to 10 years of age when
the initial symptoms of XLD become evident. The prognosis of XLD depends on the occurrence
of complications, such as lymphomas and hemophagocytic lymphohistiocytosis. Without
allogenic (donor) bone marrow transplantation, approximately 70% of individuals with
XLD may not survive beyond the age of 10 years.
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TREATMENT
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Treatment of XLD may include anti-viral medicines, immunoglobulin therapy or corticosteroids,
chemotherapy or antithymocyte globulin. The definitive treatment for XLD is transplantation.
XLD affects multiple functions in the body requiring the coordination of care by pediatricians,
immunologists, hematologists, oncologists, and other health care professionals.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for
Evaluation:
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Clinical history and examination that describes diagnostic features of the impairment;
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Imaging tests including CT scans and MRI;
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Laboratory testing of the blood; and
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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13.05 A, B, or C
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Listing level malignant neoplastic (for example, lymphoma) and/or immunodeficiency
findings must be documented; diagnosis or laboratory testing results alone will not
meet listing severity.
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14.07
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Listing level malignant neoplastic (for example, lymphoma) and/or immunodeficiency
findings must be documented; diagnosis or laboratory testing results alone will not
meet listing severity.
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113.05 A, B, or C
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Listing level malignant neoplastic (for example, lymphoma) and/or immunodeficiency
findings must be documented; diagnosis or laboratory testing results alone will not
meet listing severity.
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114.07
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Listing level malignant neoplastic (for example, lymphoma) and/or immunodeficiency
findings must be documented; diagnosis or laboratory testing results alone will not
meet listing severity.
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Equals
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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