Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome.

Sanem Eren Akarcan,Neslihan Edeer Karaca,Guzide Aksu,Ayca Aykut,Deniz Yilmaz Karapinar,Funda Cetin,Yesim Aydinok,Elif Azarsiz,Eleonora Gambineri,Ozgur Cogulu,Ezgi Ulusoy Severcan,Hudaver Alper,Necil Kutukculer

JMM case reports（2018）

引用 16|浏览14

暂无评分

摘要

LRBA deficiency is a recently defined defect, with variable presentations in different patients; a single, definitive treatment option is thus not yet available.

查看译文

关键词

IPEX phenotype,LRBA deficiency,abatacept,autoimmunity,enteropathy,lung infections

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要