LPS-responsive beige-like anchor (LRBA) protein deficiency is a disease of immune dysregulation with autoimmunity affecting various systems.

Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome / 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. - In: JMM CASE REPORTS. - ISSN 2053-3721. - ELETTRONICO. - 5:(2018), pp. e005167-xxx. [10.1099/jmmcr.0.005167]

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

Gambineri, Eleonora;
2018

Abstract

LPS-responsive beige-like anchor (LRBA) protein deficiency is a disease of immune dysregulation with autoimmunity affecting various systems.
2018
5
e005167
xxx
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
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1150866
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