Nova mutacija gena SH2D1A s vrlo teškim fenotipom X-vezane limfoproliferativne bolesti – prikaz bolesnika (CROSBI ID 629685)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | domaća recenzija
Podaci o odgovornosti
Kovačević, Tanja ; Vuletić, A ; Polić, Branka ; Markić, Joško ; Meštrović, Julije ; zur Stadt, Udo ; Krželj, Vjekoslav ; Lozić, Bernarda
hrvatski
Nova mutacija gena SH2D1A s vrlo teškim fenotipom X-vezane limfoproliferativne bolesti – prikaz bolesnika
X-linked lymphoproliferative disease 1 (XLP 1) is a rare, primary immunodeficiency caused by a mutation in the gene SH2D1A, which encodes SLAM- associated protein (SAP). Most commonly, it presents as fulminant infectious mononucleosis due to inappropriate immune response to Epstein-Barr virus infection, lymphoma or dysgammaglobulinemia. We report a case of cytomegalovirus infection with the development of successive mononucleosis syndrome, hepatitis and hemophagocytic lymphohistiocytosis resulting in death within a several weeks. XLP 1 was confirmed by genetic sequencing and novel hemizygous mutation in the SH2D1A gene c.80G>A (p.Gly27Asp) was found. Since, the other two patient’s brothers died earlier due to the consequences of cytomegalovirus infection, we conclude this new pathogenic mutation causes XLP 1 characterized by fatal clinical manifestations in the affected family members and triggered by cytomegalovirus infection.
mutacija; SH2D1A; X-vezana limfoproliferativna bolest
nije evidentirano
engleski
Novel SH2D1A mutation with severe phenotype X-linked lymphoproliferative disease 1 - a clinical report
nije evidentirano
SH2D1A; mutation; X-linked lymphoproliferative disease 1
nije evidentirano
Podaci o prilogu
69-69.
2015.
objavljeno
Podaci o matičnoj publikaciji
Knjiga sažetaka VI. hrvatskog kongresa humane genetike
Barišić, Ingeborg
Split:
Podaci o skupu
VI. hrvatskog kongresa humane genetike
poster
05.11.2015-07.11.2015
Split, Hrvatska