Author/Authors :
Recher، نويسنده , , Mike and Fried، نويسنده , , Ari J. and Massaad، نويسنده , , Michel J. and Kim، نويسنده , , Hye Young and Rizzini، نويسنده , , Michela and Frugoni، نويسنده , , Francesco and Walter، نويسنده , , Jolan E. and Mathew، نويسنده , , Divij and Eibel، نويسنده , , Hermann and Hess، نويسنده , , Christoph and Giliani، نويسنده , , Silvia and Umetsu، نويسنده , , Dale T. and Notarangelo، نويسنده , , Lui، نويسنده ,
Abstract :
X-linked lymphoproliferative (XLP) disease is a primary immunodeficiency syndrome associated with the inability to control Epstein-Barr virus (EBV), lymphoma, and hypogammaglobulinemia. XLP is caused by mutations in the SH2D1A gene, which encodes the SLAM-associated protein (SAP), or in the BIRC4 gene, which encodes the X-linked inhibitor of apoptosis protein (XIAP).
e report a patient with recurrent respiratory tract infections and early onset agammaglobulinemia who carried a unique disease-causing intronic loss-of-function mutation in SH2D1A. The intronic mutation affected SH2D1A gene transcription but not mRNA splicing, and led to markedly reduced level of SAP protein. Despite undetectable serum immunoglobulins, the patientʹs B cells replicated and differentiated into antibody producing cells normally in vitro.
Keywords :
EBV , agammaglobulinemia , X-linked lymphoproliferative disease , B cells , SAP
