X-linked lymphoproliferative disease
X-linked lymphoproliferative disease (XLP), also known as Duncan's disease, is a rare genetic disorder that affects the immune system. Pronounced as "ex-linked lim-fo-pro-lif-er-a-tive disease", it is characterized by an extreme vulnerability to certain viral infections, such as the Epstein-Barr virus (EBV).
Etymology
The term "X-linked" refers to the fact that the disease is linked to the X chromosome, one of the two sex chromosomes. "Lymphoproliferative" refers to the excessive production of lymphocytes, a type of white blood cell, which is a common feature of this disease.
Symptoms
Symptoms of XLP can vary greatly, but they often include fever, enlarged liver and spleen, and swollen lymph nodes. In severe cases, the disease can lead to hemophagocytic lymphohistiocytosis, a life-threatening condition that can cause organ failure.
Causes
XLP is caused by mutations in the SH2D1A gene or the XIAP gene. These genes provide instructions for making proteins that play crucial roles in the immune system. Mutations in these genes disrupt the normal functioning of the immune system, leading to the symptoms of XLP.
Diagnosis
Diagnosis of XLP is based on clinical symptoms, family history, and genetic testing. Genetic testing can identify mutations in the SH2D1A or XIAP genes that cause the disease.
Treatment
Treatment for XLP often involves immunotherapy, chemotherapy, and in severe cases, hematopoietic stem cell transplantation.
See also
References
External links
- Medical encyclopedia article on X-linked lymphoproliferative disease
- Wikipedia's article - X-linked lymphoproliferative disease
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