X-linked recessive lymphoproliferative disease.
Synopsis
pharyngitis
EBV-associated lymphoid granulomatosis
hepatomegaly
fulminant hepatitis
liver failure and hepatic encephalopathy
splenomegaly
meningitis
encephalitis
anemia
thrombocytopenia
pancytopenia
atypical lymphocytosis - lymphadenopathy
fulminant infectious mononucleosis
large regions of necrosis in lymph nodes, thymus, bone marrow, and spleen Synopsis
EBV-associated ’fatal infectious mononucleosis’
combined variable immunodeficiency involving B and T cells
normal number of B cells
Normal number of T cells
Reduced CD4+/CD8+ ratio with CD8+ predominance
Reduced natural killer cell activity
Etiology
germline mutation in the SH2D1A gene that encodes an SH2 domain protein named SH2D1A or SAP (signaling lymphocyte activating molecule [SLAM]-associated protein)
References
Engel P, Eck MJ, Terhorst C. The SAP and SLAM families in immune responses and X-linked lymphoproliferative disease. Nat Rev Immunol. 2003 Oct;3(10):813-21. PMID: 14523387