Syn.: Lymphoproliferative disease, X-linked (XLPD), choroba Duncana.
Def .: Primary immunodeficiency – from the group of diseases of dysregulation of the immune response.
Epid .: A rare disease inherited in a recessive gender-linked manner; occurs with a frequency of 1-3: 1 live births of boys.
Etiol .: Defect of the SHD2D1A gene (Xq25 chromosome) encoding the SLAM protein responsible for the functional maturity of helper and cytotoxic lymphocytes.
Clinical: After EBV infection (the most common fulminant form of infectious mononucleosis), severe liver damage, encephalitis and meningitis, thrombocytopenia, anemia, often fatal. In 30% of cases which have recovered later, lymphomas develop, mainly type B, haemophagocytic syndrome, and aplastic anemia.
Hist .: Liver biopsy shows in the periportal area typical intense infiltration of B lymphocytes containing the EBNA-1 antigen with the presence of numerous CD8 lymphocytes and NK cells of the periportal area.
DL: Hypogammaglobulinaemia, mainly IgG. Molecular genetic analysis confirms the diagnosis.
DR: Aplastic anemia, mononucleosis.
Healing: Regular or during EBV infection IVIg infusions. Transplantation of bone marrow or allogeneic hematopoietic cells should be performed early. Attempts to use anti-CD20 monoclonal antibodies (rituximab).
Year: Bad for longer survival without the possibility of bone marrow transplantation. Before the age of 10 70% of patients die, 60% develop fulminant mononucleosis.
Lit.: [1] Purtilo D.T., DeFlorio D., Hutt L. i wsp.: Variable phenotypic expression of an X-linked recessive lymphoproliferative syndrome. New Eng J Med 1977, 297; 1077-81. [2] Seemayer T.A., Gross T.G., Egeler R.M. i wsp.: X-linked lymphoproliferative disease: twenty-five years aft er the discovery. Pediat Res 1995, 38; 471-8.
Source: A. Kaszuba, Z. Adamski: “Lexicon of dermatology”; XNUMXst edition, Czelej Publishing House