X-linked lymphoproliferative disease due to SH2D1A deficiency

X-linked lymphoproliferative disease due to SH2D1A deficiency is a rare genetic primary immunodeficiency disorder. It is characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, which can lead to excessive B cell proliferation. This condition is caused by mutations in the X-linked SH2D1A gene, resulting in a range of clinical manifestations. People with this condition can experience severe or fulminant mononucleosis driven by EBV, and may develop complications such as hemophagocytic lymphohistiocytosis, which can involve severe liver problems, bone marrow issues, and neurological symptoms. Additional manifestations may include low levels of immunoglobulins (hypogammaglobulinemia), B-cell lymphoma, and, in some cases, other symptoms like vasculitis or chronic gastritis.

Common signs and symptoms include severe or fulminant mononucleosis linked to EBV infection, and features of hemophagocytic lymphohistiocytosis such as hepatitis, liver necrosis, reduced bone marrow function, and neurological involvement. Other symptoms may include low immunoglobulin levels (hypogammaglobulinemia) and the development of B-cell lymphoma. In some cases, people might experience vasculitis, lymphomatoid granulomatosis, aplastic anemia, chronic gastritis, or rarely T-cell lymphoma.

This condition is caused by hemizygous mutations in the SH2D1A gene, which is located on the X chromosome. The mutation leads to problems with the immune system's response to EBV infection, causing abnormal B cell growth and a range of clinical symptoms. This genetic defect is the primary cause and explains the X-linked pattern of inheritance seen in this disorder.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.