Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement

Griscelli syndrome type 2 (GS-2) is an inborn error of immunity characterized by partial albinism and episodes of hemophagocytic lymphohistiocytosis (HLH). It is caused by RAB27A mutations that encode RAB27A, a member of the Rab GTPase family. RAB27A is expressed in many tissues and regulates vesicu...

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Bibliografski detalji

Glavni autori:	Yuta Ohishi, Sandra Ammann, Vahid Ziaee, Katharina Strege, Miriam Groß, Carla Vazquez Amos, Mohammad Shahrooei, Parisa Ashournia, Anahita Razaghian, Gillian M. Griffiths, Stephan Ehl, Mitsunori Fukuda, Nima Parvaneh
Format:	Artigo
Jezik:	Inglês
Izdano:	Frontiers Media S.A. 2020-12-01
Serija:	Frontiers in Immunology
Teme:	Griscelli syndrome type 2 sine albinism whole-exome sequencing hemophagocytic lymphohistiocytosis RAB27A MLPH/SLAC2-A MUNC13-4
Online pristup:	https://www.frontiersin.org/articles/10.3389/fimmu.2020.612977/full
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