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

INTRODUCTION: LPS-responsive beige-like anchor (LRBA) protein deficiency is a disease of immune dysregulation with autoimmunity affecting various systems. CASE PRESENTATION: Two male siblings with a novel LRBA mutation had different primary findings at admission: the younger sibling had chronic earl...

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Detalles Bibliográficos
Autores principales: Eren Akarcan, Sanem, Edeer Karaca, Neslihan, Aksu, Guzide, Aykut, Ayca, Yilmaz Karapinar, Deniz, Cetin, Funda, Aydinok, Yesim, Azarsiz, Elif, Gambineri, Eleonora, Cogulu, Ozgur, Ulusoy Severcan, Ezgi, Alper, Hudaver, Kutukculer, Necil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Microbiology Society 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6249428/
https://www.ncbi.nlm.nih.gov/pubmed/30479781
http://dx.doi.org/10.1099/jmmcr.0.005167

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6249428/
https://www.ncbi.nlm.nih.gov/pubmed/30479781
http://dx.doi.org/10.1099/jmmcr.0.005167

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