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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:JMM Case Rep
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Microbiology Society 2018
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6249428/
https://ncbi.nlm.nih.gov/pubmed/30479781
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1099/jmmcr.0.005167
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg