Σφακιανάκης Αλέξανδρος
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5 Άγιος Νικόλαος
Κρήτη 72100
00302841026182
00306932607174
alsfakia@gmail.com

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! # Ola via Alexandros G.Sfakianakis on Inoreader

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Τρίτη 10 Ιανουαρίου 2017

A novel kindred with inherited STAT2 deficiency and severe viral illness

Autosomal recessive signal transducer and activator of transcription 2 (STAT2) deficiency was first reported in 2 siblings. One developed disseminated vaccine-strain measles following routine immunization with measles-mumps-rubella but recovered. The younger sibling died in infancy from a probable viral infection.1 Pedigree analysis showed incomplete clinical penetrance for the severe viral infection phenotype in this kindred, giving rise to questions regarding the completeness of the STAT2 defect.

http://ift.tt/2j0kTw2

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