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Pathology - Wiskott - Aldrich Syndrome
Symptomatic triad of Wiskott–Aldrich syndrome (WAS) involves T hrombocytopenia, recurrent sinopulmonary I nfections, and E czema (mnemonic: TIE). WAS is an X-linked recessive disorder characterized by poor cell-mediated immunity and decreased IgM production through gradual deletion of T and B cells. The pathogenesis comes from a null-mutation in the gene that codes the WAS protein (WASP), a regulator of actin polymerization in hematopoietic cells. This leads in the absence of a particular glycoprotein receptor on T cells and platelets, resulting to a poor response to polysaccharide vaccines and to thrombocytopenia, respectively.
Megakaryocyte levels are typical. Splenomegaly can arise attributable to splenic sequestration of platelets, due to the faulty receptor and so contributing to the thrombocytopenia. Petechiae are small hemorrhages within the skin that are a sign of reduced platelets. Levels of IgG will be normal and IgA and IgE may be normal or elevated. Patients are prone to bacterial, viral, and fungal infections and also have a high frequency of autoimmune diseases and lymphoreticular cancers. Bone marrow transplantation may be useful as treatment.
Symptomatic triad of Wiskott–Aldrich syndrome (WAS) involves T hrombocytopenia, recurrent sinopulmonary I nfections, and E czema (mnemonic: TIE). WAS is an X-linked recessive disorder characterized by poor cell-mediated immunity and decreased IgM production through gradual deletion of T and B cells. The pathogenesis comes from a null-mutation in the gene that codes the WAS protein (WASP), a regulator of actin polymerization in hematopoietic cells. This leads in the absence of a particular glycoprotein receptor on T cells and platelets, resulting to a poor response to polysaccharide vaccines and to thrombocytopenia, respectively.
Megakaryocyte levels are typical. Splenomegaly can arise attributable to splenic sequestration of platelets, due to the faulty receptor and so contributing to the thrombocytopenia. Petechiae are small hemorrhages within the skin that are a sign of reduced platelets. Levels of IgG will be normal and IgA and IgE may be normal or elevated. Patients are prone to bacterial, viral, and fungal infections and also have a high frequency of autoimmune diseases and lymphoreticular cancers. Bone marrow transplantation may be useful as treatment.
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