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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

Kovačević, Tanja ; Vuletić, A ; Polić, Branka ; Markić, Joško ; Meštrović, Julije ; zur Stadt, Udo ; Krželj, Vjekoslav ; Lozić, Bernarda Nova mutacija gena SH2D1A s vrlo teškim fenotipom X-vezane limfoproliferativne bolesti – prikaz bolesnika // Knjiga sažetaka VI. hrvatskog kongresa humane genetike / Barišić, Ingeborg (ur.). Split, 2015. str. 69-69

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

Povezanost rada

Kliničke medicinske znanosti