Avtor/Urednik		Debeljak, M; Trebušak-Podkrajšek, K; Aplenc, R; Jazbec, J
Naslov		A case study of X-linked lymphoproliferative disease - a patient with a novel SH2D1A gene mutation
Prevedeni naslov		Prikaz primera bolnika z na kromosom X vezano limfoproliferativno boleznijo z novo mutacijo v genu SH2D1A
Tip		članek
Vir		Slov Pediatr
Vol. in št.		Letnik 15, št. 1
Leto izdaje		2008
Obseg		str. 72-5
Jezik		eng
Abstrakt		X-linked lymphoproliferative disease is a rare inherited immunodeficiency characterised by extreme vulnerability to Epstein-Barr virus (EBV) infections. Despite phenotypical heterogenicity of the inirial presentation, the disease is usually lethal by the age of twenty. The gene responsible for XLP, SH2D1A maps to the long arm of the X-chromosome (Xq25). Several classes of SH2D 1 A mutations have been identified in XLP patients. We present a case of a 3'/z- year-old boy with XLP and a novel mutation. The mutation 201 G>A is located at the 5' end of exon 2 and changes a donor splice site. Despite a positive family history, the diagnosis was established only when the patient became symptomatic and genetic analysis confirmed the novel mutation. A novel mutation at the end of exon 2, identified in the presented kindred, changes the exon 2 donor splice site. The small size of the SH2D1A gene facilitates genetic screening for mutations causing XLP. Boys with a family history suggestive of XLP should be routinely tested for mutations in the SH2D 1 A gene.
Deskriptorji		LYMPHOPROLIFERATIVE DISORDERS BONE MARROW TRANSPLANTATION MUTATION EXONS CHILD, PRESCHOOL