Naslov
Nova mutacija gena SH2D1A s vrlo teškim fenotipom X-vezane limfoproliferativne bolesti – prikaz bolesnika
(Novel SH2D1A mutation with severe phenotype X-linked lymphoproliferative disease 1 - a clinical report)

Autori
Kovačević, Tanja ; Vuletić, A ; Polić, Branka ; Markić, Joško ; Meštrović, Julije ; zur Stadt, Udo ; Krželj, Vjekoslav ; Lozić, Bernarda

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Knjiga sažetaka VI. hrvatskog kongresa humane genetike / Barišić, Ingeborg - Split, 2015, 69-69

Skup
VI. hrvatskog kongresa humane genetike

Mjesto i datum
Split, Hrvatska, 05.11.2015. - 07.11.2015

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
mutacija; SH2D1A; X-vezana limfoproliferativna bolest
(SH2D1A; mutation; X-linked lymphoproliferative disease 1)

Sažetak
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.

Izvorni jezik
Hrvatski

Znanstvena područja
Kliničke medicinske znanosti

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